R13R (p.Arg13Arg) variant of BEST1 (Bestrophin-1)
R13R (p.Arg13Arg) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R13R (p.Arg13Arg) variant details
- p.Arg13Arg
- rs1940694228
- gnomAD 11-61951845-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 16.20
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available