Classification
Category 3
non_synonymous
CMH MAF
3 /
13144 samples
(0.0228%)
3 het.,
0 hom.
(100%)
3 /
26288 total alleles
(0.0114%)
Genes
gene: SKI
synonym(s): SGS, SKV, SKI, ENSG00000157933
NM_003036.3
[CDS]
Reportable
hgvs_c: NM_003036.3:c.1505C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 1577
CDS pos: 1505
translation impact: non_synonymous
protein sequence:
NP_003027.1
AA pos: 502
hgvs_p: NP_003027.1:p.Pro502Leu
blosum: -3
SIFT: deleterious (0.01)
PolyPhen2: probably_damaging (0.998)
dbSNP
rs1057520161
TOPMED_MAF = 0.00000796381243628
ClinVar
377202
clinvar_significance = Uncertain_significance
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 17504 |
0% |
| America/Latino |
0 / 25622 |
0% |
| Ashkenazi Jewish |
0 / 8814 |
0% |
| East Asian |
0 / 12898 |
0% |
| Finnish |
0 / 18904 |
0% |
| Non-Finnish |
3 / 74544 |
0.00402% |
| Other |
0 / 5514 |
0% |
| South Asian |
0 / 22796 |
0% |
| Korean |
0 / 1870 |
0% |
| Japanese |
0 / 94 |
0% |
| Other East Asian |
0 / 9374 |
0% |
| Bulgarian |
0 / 992 |
0% |
| Estonian |
0 / 4802 |
0% |
| North-Western European |
1 / 44156 |
0.00226% |
| Southern European |
0 / 2100 |
0% |
| Swedish |
0 / 1904 |
0% |
| Other non-Finnish European |
2 / 20590 |
0.00971% |
| Total MAF |
3 / 186596 |
0.00161% |
Export Variant
Curation
Uncertain Significance