V26A (p.Val26Ala) variant of H6PD (O95479)
V26A (p.Val26Ala) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V26A (p.Val26Ala) variant details
- p.Val26Ala
- gnomAD 1-9245011-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.24
- MetaLR 0.18
- MetaSVM -0.78
- CADD 25.70
- PolyPhen-2 0.27
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available