I29V (p.Ile29Val) variant of H6PD (O95479)
I29V (p.Ile29Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I29V (p.Ile29Val) variant details
- p.Ile29Val
- gnomAD 1-9245019-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -0.97
- CADD 8.74
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available