F60Y (p.Phe60Tyr) variant of HFE (Q30201)
F60Y (p.Phe60Tyr) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
F60Y (p.Phe60Tyr) variant details
- p.Phe60Tyr
- gnomAD 6-26090943-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.06
- MetaLR 0.00
- MetaSVM -0.94
- CADD 11.90
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available