H58Y (p.His58Tyr) variant of H6PD (O95479)
H58Y (p.His58Tyr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
H58Y (p.His58Tyr) variant details
- p.His58Tyr
- ESP rs375333419
- ExAC rs375333419
- gnomAD rs375333419
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.06
- MetaLR 0.18
- MetaSVM -0.91
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available