A38V (p.Ala38Val) variant of H6PD (O95479)
A38V (p.Ala38Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- gnomAD 1-9245047-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.77
- MetaLR 0.62
- MetaSVM 0.41
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available