1:2235762-2235762 C > T

Classification

Category 3

non_synonymous

CMH MAF

3 / 13144 samples (0.0228%)
3 het., 0 hom. (100%)
3 / 26288 total alleles (0.0114%)

Genes

Consequences
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