H28Y (p.His28Tyr) variant of HFE (Q30201)
H28Y (p.His28Tyr) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
H28Y (p.His28Tyr) variant details
- p.His28Tyr
- TOPMed rs1762644334
- gnomAD rs1762644334
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.49
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available