R47P (p.Arg47Pro) variant of BEST1 (Bestrophin-1)
R47P (p.Arg47Pro) in BEST1 (Bestrophin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in VMD2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R47P (p.Arg47Pro) variant details
- p.Arg47Pro
- ExAC rs28940278
- TOPMed rs28940278
- gnomAD rs28940278
- Pathogenic
- in VMD2
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.78
- AlphaMissense 0.28
- MetaLR 0.93
- MetaSVM 1.11
- CADD 17.10
- PolyPhen-2 0.67
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available