C53Y (p.Cys53Tyr) variant of SLC30A8 (Q8IWU4)
C53Y (p.Cys53Tyr) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
C53Y (p.Cys53Tyr) variant details
- p.Cys53Tyr
- TOPMed rs917503960
- gnomAD rs917503960
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.42
- MetaLR 0.36
- MetaSVM -0.32
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available