G15C (p.Gly15Cys) variant of H6PD (O95479)
G15C (p.Gly15Cys) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G15C (p.Gly15Cys) variant details
- p.Gly15Cys
- TOPMed rs1179343463
- gnomAD rs1179343463
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.59
- MetaLR 0.87
- MetaSVM 0.86
- CADD 24.70
- PolyPhen-2 0.50
- SIFT 0.12
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available