L234V (p.Leu234Val) variant of BEST1 (Bestrophin-1)
L234V (p.Leu234Val) 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 0.85 / 1. The record also includes structural context.
L234V (p.Leu234Val) variant details
- p.Leu234Val
- rs2134440476
- ClinGen CA380838876
- ClinVar RCV002025815
- ClinVar RCV004816910
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.63
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available