R13G (p.Arg13Gly) variant of BEST1 (Bestrophin-1)
R13G (p.Arg13Gly) 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; Isolated macular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- rs886041141
- ClinGen CA380831194
- ClinVar RCV000513111
- ClinVar RCV001199441
- Pathogenic/Likely pathogenic
- not provided; Isolated macular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.18
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (not provided; Isolated macular dystrophy)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available