Q56H (p.Gln56His) variant of HFE (Q30201)
Q56H (p.Gln56His) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Q56H (p.Gln56His) variant details
- p.Gln56His
- TOPMed rs1762651942
- gnomAD rs1762651942
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.13
- CADD 13.90
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available