Y52Y (p.Tyr52Tyr) variant of HFE (Q30201)
Y52Y (p.Tyr52Tyr) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
Y52Y (p.Tyr52Tyr) variant details
- p.Tyr52Tyr
- rs756070473
- gnomAD 6-26090920-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0835
- CADD 0.40
- Population evidence available
- Structural context available
- Literature evidence available