V9M (p.Val9Met) variant of BEST1 (Bestrophin-1)
V9M (p.Val9Met) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
V9M (p.Val9Met) variant details
- p.Val9Met
- rs28940276
- ClinGen CA227751
- ClinVar RCV000002855
- ClinVar RCV000086110
- Pathogenic
- 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 (Retinal dystrophy)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult… (PMID 10854112)
- Cited in: Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular… (PMID 9700209)