H28H (p.His28His) variant of HFE (Q30201)
H28H (p.His28His) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H28H (p.His28His) variant details
- p.His28His
- rs766876606
- gnomAD 6-26090848-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 7.87
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available