H63R (p.His63Arg) variant of H6PD (O95479)
H63R (p.His63Arg) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
H63R (p.His63Arg) variant details
- p.His63Arg
- ExAC rs766362601
- TOPMed rs766362601
- gnomAD rs766362601
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.69
- MetaLR 0.89
- MetaSVM 1.04
- CADD 25.00
- PolyPhen-2 0.68
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available