Y32C (p.Tyr32Cys) variant of HFE (Q30201)
Y32C (p.Tyr32Cys) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y32C (p.Tyr32Cys) variant details
- p.Tyr32Cys
- gnomAD 6-26090859-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.16
- MetaLR 0.02
- MetaSVM -1.10
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available