D54D (p.Asp54Asp) variant of HFE (Q30201)
D54D (p.Asp54Asp) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
D54D (p.Asp54Asp) variant details
- p.Asp54Asp
- gnomAD 6-26090926-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0901
- CADD 1.34
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available