W74* (p.Trp74Ter) variant of HFE (Q30201)
W74* (p.Trp74Ter) in HFE (Q30201) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
W74* (p.Trp74Ter) variant details
- p.Trp74Ter
- gnomAD rs1762658380
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.838
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available