R13P (p.Arg13Pro) variant of BEST1 (Bestrophin-1)
R13P (p.Arg13Pro) 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 0.88 / 1. The record also includes structural context.
R13P (p.Arg13Pro) variant details
- p.Arg13Pro
- rs281865209
- ClinGen CA16621619
- ClinVar RCV000487671
- ExAC rs281865209
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.81
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available