R47S (p.Arg47Ser) variant of BEST1 (Bestrophin-1)
R47S (p.Arg47Ser) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R47S (p.Arg47Ser) variant details
- p.Arg47Ser
- gnomAD 11-61951945-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.53
- CADD 15.80
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available