R54R (p.Arg54Arg) variant of AIP (AH receptor-interacting protein)
R54R (p.Arg54Arg) in AIP (AH receptor-interacting protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R54R (p.Arg54Arg) variant details
- p.Arg54Arg
- gnomAD 11-67487066-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 7.11
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available