R51S (p.Arg51Ser) variant of BEST1 (Bestrophin-1)
R51S (p.Arg51Ser) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R51S (p.Arg51Ser) variant details
- p.Arg51Ser
- ExAC rs751807541
- gnomAD rs751807541
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.86
- CADD 19.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available