R47C (p.Arg47Cys) variant of BEST1 (Bestrophin-1)
R47C (p.Arg47Cys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R47C (p.Arg47Cys) variant details
- p.Arg47Cys
- rs765333778
- ClinGen CA6040678
- ClinVar RCV001376914
- ExAC rs765333778
- Pathogenic/Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.67
- CADD 16.30
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available