R23R (p.Arg23Arg) variant of HFE (Q30201)
R23R (p.Arg23Arg) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R23R (p.Arg23Arg) variant details
- p.Arg23Arg
- gnomAD 6-26087509-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 9.22
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available