Classification
Category 3
non_synonymous
CMH MAF
4 /
13144 samples
(0.0304%)
4 het.,
0 hom.
(100%)
4 /
26288 total alleles
(0.0152%)
Genes
gene: MTPAP
synonym(s): PAPD1, RP11-305E6.3, SPAX4, MTPAP, ENSG00000107951
NM_018109.3
[CDS]
Reportable
hgvs_c: NM_018109.3:c.227G>A
reference AA: R
variant AA: Q
reference codon: cGg
variant codon: cAg
cDNA pos: 290
CDS pos: 227
translation impact: non_synonymous
protein sequence:
NP_060579.3
AA pos: 76
hgvs_p: NP_060579.3:p.Arg76Gln
blosum: 1
SIFT: deleterious (0.01)
PolyPhen2: possibly_damaging (0.581)
dbSNP
rs765906039
TOPMED_MAF = 0.00000796381243628
ClinVar
377198
clinvar_significance = Uncertain_significance
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10378 |
0% |
| America/Latino |
0 / 11578 |
0% |
| East Asian |
0 / 8652 |
0% |
| Finnish |
0 / 6610 |
0% |
| Non-Finnish |
2 / 66692 |
0.003% |
| Other |
0 / 908 |
0% |
| South Asian |
1 / 16504 |
0.00606% |
| Total MAF |
3 / 121322 |
0.00247% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16252 |
0% |
| America/Latino |
0 / 34592 |
0% |
| Ashkenazi Jewish |
0 / 10076 |
0% |
| East Asian |
0 / 18394 |
0% |
| Finnish |
0 / 21644 |
0% |
| Non-Finnish |
2 / 113688 |
0.00176% |
| Other |
0 / 6134 |
0% |
| South Asian |
1 / 30612 |
0.00327% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 240 |
0% |
| North-Western European |
0 / 42182 |
0% |
| Southern European |
0 / 11496 |
0% |
| Swedish |
2 / 26132 |
0.00765% |
| Other non-Finnish European |
0 / 30970 |
0% |
| Total MAF |
3 / 251392 |
0.00119% |
Export Variant
Curation
Uncertain Significance