R19C (p.Arg19Cys) variant of BEST1 (Bestrophin-1)
R19C (p.Arg19Cys) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinal dystrophy; not provided; BEST1-related dominant retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- rs765385264
- ClinGen CA6040665
- NCI-TCGA Cosmic COSV5712
- cosmic curated COSV57120
- Conflicting interpretations
- Retinal dystrophy; not provided; BEST1-related dominant retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.63
- CADD 19.40
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Retinal dystrophy; not provided; BEST1-related dominant retinopa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)