L14V (p.Leu14Val) variant of H6PD (O95479)
L14V (p.Leu14Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- gnomAD 1-9244974-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.35
- MetaLR 0.89
- MetaSVM 0.35
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available