G57V (p.Gly57Val) variant of H6PD (O95479)
G57V (p.Gly57Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G57V (p.Gly57Val) variant details
- p.Gly57Val
- gnomAD 1-9245104-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.30
- MetaLR 0.39
- MetaSVM -0.29
- CADD 23.80
- PolyPhen-2 0.93
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available