L51V (p.Leu51Val) variant of H6PD (O95479)
L51V (p.Leu51Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- gnomAD 1-9245085-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.27
- MetaLR 0.84
- MetaSVM 0.40
- CADD 14.30
- PolyPhen-2 0.16
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available