R19H (p.Arg19His) variant of BEST1 (Bestrophin-1)
R19H (p.Arg19His) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa 50; Vitelliform macular dystrophy 2; Autosomal dominant vit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- rs752923595
- ClinGen CA6040666
- cosmic curated COSV10511
- ClinVar RCV002006249
- Conflicting interpretations
- Retinitis pigmentosa 50; Vitelliform macular dystrophy 2; Autosomal dominant vit
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.68
- CADD 21.10
- PolyPhen-2 0.07
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 50; Vitelliform macular dystrophy 2; Autoso)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)