R71R (p.Arg71Arg) variant of HFE (Q30201)
R71R (p.Arg71Arg) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R71R (p.Arg71Arg) variant details
- p.Arg71Arg
- gnomAD 6-26090977-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0826
- CADD 0.29
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available