R25R (p.Arg25Arg) variant of BEST1 (Bestrophin-1)
R25R (p.Arg25Arg) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R25R (p.Arg25Arg) variant details
- p.Arg25Arg
- rs281865214
- gnomAD 11-61951879-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 18.90
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Literature evidence available