R25W (p.Arg25Trp) variant of BEST1 (Bestrophin-1)
R25W (p.Arg25Trp) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- rs281865214
- ClinGen CA227817
- NCI-TCGA Cosmic COSV5712
- cosmic curated COSV57120
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.83
- CADD 19.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Vitelliform macular dystrophy 2)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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 the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult… (PMID 10854112)