L42V (p.Leu42Val) variant of H6PD (O95479)
L42V (p.Leu42Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L42V (p.Leu42Val) variant details
- p.Leu42Val
- gnomAD 1-9245058-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.71
- MetaLR 0.96
- MetaSVM 1.04
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available