Classification
Category 3
non_synonymous
CMH MAF
8 /
14969 samples
(0.0534%)
8 het.,
0 hom.
(100%)
8 /
29938 total alleles
(0.0267%)
Genes
gene: PSAP
synonym(s): GLBA, SAP1, PSAP, ENSG00000197746
NM_001042465.1
[CDS]
hgvs_c: NM_001042465.1:c.623T>G
reference AA: I
variant AA: S
reference codon: aTc
variant codon: aGc
cDNA pos: 727
CDS pos: 623
translation impact: non_synonymous
protein sequence:
NP_001035930.1
AA pos: 208
hgvs_p: NP_001035930.1:p.Ile208Ser
blosum: -2
NM_001042466.1
[CDS]
hgvs_c: NM_001042466.1:c.623T>G
reference AA: I
variant AA: S
reference codon: aTc
variant codon: aGc
cDNA pos: 727
CDS pos: 623
translation impact: non_synonymous
protein sequence:
NP_001035931.1
AA pos: 208
hgvs_p: NP_001035931.1:p.Ile208Ser
blosum: -2
NM_002778.2
[CDS]
Reportable
hgvs_c: NM_002778.2:c.623T>G
reference AA: I
variant AA: S
reference codon: aTc
variant codon: aGc
cDNA pos: 727
CDS pos: 623
translation impact: non_synonymous
protein sequence:
NP_002769.1
AA pos: 208
hgvs_p: NP_002769.1:p.Ile208Ser
blosum: -2
SIFT: tolerated (0.06)
PolyPhen2: benign (0.371)
dbSNP
rs200319381
GMAF = 0.0001997
TOPMED_MAF = 0.00020705912334352
ClinVar
445595
clinvar_significance = Uncertain_significance
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10406 |
0% |
| America/Latino |
68 / 11578 |
0.587% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
0 / 66736 |
0% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16512 |
0% |
| Total MAF |
68 / 121408 |
0.056% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 24970 |
0% |
| America/Latino |
162 / 35440 |
0.457% |
| Ashkenazi Jewish |
0 / 10370 |
0% |
| East Asian |
0 / 19954 |
0% |
| Finnish |
0 / 25124 |
0% |
| Non-Finnish |
0 / 129184 |
0% |
| Other |
2 / 7226 |
0.0277% |
| South Asian |
0 / 30616 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 4820 |
0% |
| North-Western European |
0 / 50816 |
0% |
| Southern European |
0 / 11610 |
0% |
| Swedish |
0 / 26134 |
0% |
| Other non-Finnish European |
0 / 33134 |
0% |
| Total MAF |
164 / 282884 |
0.058% |
Export Variant