S95Y (p.Ser95Tyr) variant of ABCC8 (Q09428)
S95Y (p.Ser95Tyr) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
S95Y (p.Ser95Tyr) variant details
- p.Ser95Tyr
- TOPMed rs1056079916
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.78
- CADD 27.70
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available