W93C (p.Trp93Cys) variant of BEST1 (Bestrophin-1)
W93C (p.Trp93Cys) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W93C (p.Trp93Cys) variant details
- p.Trp93Cys
- rs28940273
- ClinGen CA380834047
- ClinVar RCV002971569
- ClinVar RCV004817148
- Pathogenic
- not provided; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.97
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)
- Cited in: Bestrophin Cl- channels are highly permeable to HCO3-. (PMID 18400985)