W24C (p.Trp24Cys) variant of BEST1 (Bestrophin-1)
W24C (p.Trp24Cys) 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 Retinal dystrophy; not provided; Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
W24C (p.Trp24Cys) variant details
- p.Trp24Cys
- rs281865213
- ClinGen CA227816
- ClinVar RCV000086168
- ClinVar RCV004815155
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Vitelliform macular dystrophy 2)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (PMID 10798642)
- Cited in: Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular… (PMID 9700209)