Y61H (p.Tyr61His) variant of HFE (Q30201)
Y61H (p.Tyr61His) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y61H (p.Tyr61His) variant details
- p.Tyr61His
- gnomAD 6-26090945-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.49
- MetaLR 0.90
- MetaSVM 0.61
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available