G24E (p.Gly24Glu) variant of H6PD (O95479)
G24E (p.Gly24Glu) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G24E (p.Gly24Glu) variant details
- p.Gly24Glu
- TOPMed rs1641117965
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.32
- MetaLR 0.20
- MetaSVM -0.88
- CADD 24.40
- PolyPhen-2 0.66
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available