R54R (p.Arg54Arg) variant of CASR (P41180)
R54R (p.Arg54Arg) in CASR (P41180) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R54R (p.Arg54Arg) variant details
- p.Arg54Arg
- rs2074531057
- gnomAD 3-122254349-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 13.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available