R19S (p.Arg19Ser) variant of BEST1 (Bestrophin-1)
R19S (p.Arg19Ser) in BEST1 (Bestrophin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- ExAC rs765385264
- TOPMed rs765385264
- gnomAD rs765385264
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.63
- CADD 19.50
- PolyPhen-2 0.10
- SIFT 0.15
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available