Classification
Category 3
non_synonymous
CMH MAF
3 /
14969 samples
(0.02%)
3 het.,
0 hom.
(100%)
3 /
29938 total alleles
(0.01%)
Genes
gene: PDSS1
synonym(s): COQ1, COQ10D2, DPS, hDPS1, RP13-16H11.3, SPS, TPRT, TPT, PDSS1, ENSG00000148459
NM_014317.3
[CDS]
Reportable
hgvs_c: NM_014317.3:c.553G>A
reference AA: D
variant AA: N
reference codon: Gat
variant codon: Aat
cDNA pos: 599
CDS pos: 553
translation impact: non_synonymous
protein sequence:
NP_055132.2
AA pos: 185
hgvs_p: NP_055132.2:p.Asp185Asn
blosum: 1
SIFT: tolerated (0.42)
PolyPhen2: benign (0.036)
dbSNP
rs144149122
TOPMED_MAF = 0.00003981906218144
ClinVar
376967
clinvar_significance = Uncertain_significance
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000116,0.000227,0.000154
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 10406 |
0.00961% |
| America/Latino |
0 / 11576 |
0% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
12 / 66732 |
0.018% |
| Other |
0 / 908 |
0% |
| South Asian |
2 / 16510 |
0.0121% |
| Total MAF |
15 / 121400 |
0.0124% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 24974 |
0.00801% |
| America/Latino |
2 / 35438 |
0.00564% |
| Ashkenazi Jewish |
0 / 10370 |
0% |
| East Asian |
0 / 19950 |
0% |
| Finnish |
0 / 25122 |
0% |
| Non-Finnish |
14 / 129150 |
0.0108% |
| Other |
0 / 7228 |
0% |
| South Asian |
3 / 30616 |
0.0098% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
2 / 4832 |
0.0414% |
| North-Western European |
1 / 50796 |
0.00197% |
| Southern European |
0 / 11606 |
0% |
| Swedish |
10 / 26134 |
0.0383% |
| Other non-Finnish European |
1 / 33114 |
0.00302% |
| Total MAF |
21 / 282848 |
0.00742% |
Export Variant