R255W (p.Arg255Trp) variant of BEST1 (Bestrophin-1)
R255W (p.Arg255Trp) 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 Vitelliform macular dystrophy 2; Retinitis pigmentosa 50; Autosomal recessive be. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R255W (p.Arg255Trp) variant details
- p.Arg255Trp
- rs372989281
- ClinGen CA270085
- cosmic curated COSV10007
- ClinVar RCV000132651
- Pathogenic/Likely pathogenic
- Vitelliform macular dystrophy 2; Retinitis pigmentosa 50; Autosomal recessive be
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.96
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Vitelliform macular dystrophy 2; Retinitis pigmentosa 50; Autoso)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)