L5V (p.Leu5Val) variant of H6PD (O95479)
L5V (p.Leu5Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- gnomAD 1-9244947-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.49
- MetaLR 0.88
- MetaSVM 0.97
- CADD 21.20
- PolyPhen-2 0.20
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available