Q56* (p.Gln56Ter) variant of HFE (Q30201)
Q56* (p.Gln56Ter) in HFE (Q30201) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q56* (p.Gln56Ter) variant details
- p.Gln56Ter
- gnomAD 6-26090930-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 35.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available