R47L (p.Arg47Leu) variant of BEST1 (Bestrophin-1)
R47L (p.Arg47Leu) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
R47L (p.Arg47Leu) variant details
- p.Arg47Leu
- rs28940278
- ClinGen CA380832164
- ClinVar RCV003055833
- ExAC rs28940278
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.28
- MetaLR 0.93
- MetaSVM 1.11
- PolyPhen-2 0.67
- SIFT 0.01
- EVE 0.21
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available