Y61* (p.Tyr61Ter) variant of HFE (Q30201)
Y61* (p.Tyr61Ter) in HFE (Q30201) is a protein-truncating 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.
Y61* (p.Tyr61Ter) variant details
- p.Tyr61Ter
- gnomAD 6-26090947-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available