G57D (p.Gly57Asp) variant of H6PD (O95479)
G57D (p.Gly57Asp) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- gnomAD 1-9245104-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.13
- MetaLR 0.16
- MetaSVM -0.96
- CADD 18.60
- PolyPhen-2 0.07
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available