A66V (p.Ala66Val) variant of H6PD (O95479)
A66V (p.Ala66Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A66V (p.Ala66Val) variant details
- p.Ala66Val
- TOPMed rs1265494836
- gnomAD rs1265494836
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.88
- MetaLR 0.98
- MetaSVM 1.05
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available