H25Y (p.His25Tyr) variant of H6PD (O95479)
H25Y (p.His25Tyr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H25Y (p.His25Tyr) variant details
- p.His25Tyr
- gnomAD 1-9245007-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.20
- MetaLR 0.23
- MetaSVM -0.79
- CADD 24.10
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available