C10Y (p.Cys10Tyr) variant of H6PD (O95479)
C10Y (p.Cys10Tyr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
C10Y (p.Cys10Tyr) variant details
- p.Cys10Tyr
- TOPMed rs966406932
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.39
- MetaLR 0.86
- MetaSVM 0.34
- CADD 14.30
- PolyPhen-2 0.08
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available