H25R (p.His25Arg) variant of H6PD (O95479)
H25R (p.His25Arg) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H25R (p.His25Arg) variant details
- p.His25Arg
- Ensembl rs1641118132
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.24
- MetaLR 0.16
- MetaSVM -0.94
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.15
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available