Classification
Category 3
non_synonymous
CMH MAF
1 /
9594 samples
(0.0104%)
1 het.,
0 hom.
(100%)
1 /
19188 total alleles
(0.00521%)
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
clinvar_submission_scv = SCV000511479.1
gnomAD
gnomAD
Source: Genome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 8722 |
0% |
| America/Latino |
0 / 836 |
0% |
| Ashkenazi Jewish |
0 / 302 |
0% |
| East Asian |
0 / 1622 |
0% |
| Finnish |
0 / 3488 |
0% |
| Non-Finnish |
1 / 14986 |
0.00667% |
| Other |
0 / 978 |
0% |
| Total MAF |
1 / 30934 |
0.00323% |
Export Variant