S57Y (p.Ser57Tyr) variant of SLC30A8 (Q8IWU4)
S57Y (p.Ser57Tyr) in SLC30A8 (Q8IWU4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S57Y (p.Ser57Tyr) variant details
- p.Ser57Tyr
- NCI-TCGA Cosmic COSV6996
- NCI-TCGA Cosmic COSV6997
- cosmic curated COSV69971
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -0.97
- CADD 7.71
- PolyPhen-2 0.14
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available