H63H (p.His63His) variant of HFE (Q30201)
H63H (p.His63His) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H63H (p.His63His) variant details
- p.His63His
- rs147426902
- gnomAD 6-26090953-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.21
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available