R202W (p.Arg202Trp) variant of BEST1 (Bestrophin-1)
R202W (p.Arg202Trp) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; not provided; Autosomal recessive bestrophinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R202W (p.Arg202Trp) variant details
- p.Arg202Trp
- rs765998048
- ClinGen CA6040780
- ClinVar RCV000256001
- ClinVar RCV004796142
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Autosomal recessive bestrophinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.79
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Autosomal recessive bestrophino)
- EBI: Pathogenic (in ARB)
- UniProt: Pathogenic (in ARB)
- Population evidence available
- Structural context available
- Cited in: Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. (PMID 21330666)
- Cited in: Bestrophinopathies. (PMID 20301346)