Y32H (p.Tyr32His) variant of HFE (Q30201)
Y32H (p.Tyr32His) in HFE (Q30201) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Y32H (p.Tyr32His) variant details
- p.Tyr32His
- rs766458695
- ExAC rs766458695
- TOPMed rs766458695
- gnomAD rs766458695
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.15
- CADD 26.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available