G57A (p.Gly57Ala) variant of H6PD (O95479)
G57A (p.Gly57Ala) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G57A (p.Gly57Ala) variant details
- p.Gly57Ala
- TOPMed rs1641124418
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.17
- MetaLR 0.22
- MetaSVM -0.82
- CADD 23.40
- PolyPhen-2 0.58
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available