V9L (p.Val9Leu) variant of BEST1 (Bestrophin-1)
V9L (p.Val9Leu) 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; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- rs28940276
- ClinGen CA380831065
- ClinVar RCV001922643
- ClinVar RCV004815745
- Pathogenic/Likely pathogenic
- not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinal dystrophy)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available