R218C (p.Arg218Cys) variant of BEST1 (Bestrophin-1)
R218C (p.Arg218Cys) 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 Autosomal recessive bestrophinopathy; Autosomal dominant vitreoretinochoroidopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R218C (p.Arg218Cys) variant details
- p.Arg218Cys
- rs281865238
- ClinGen CA227795
- cosmic curated COSV57121
- ClinVar RCV000086150
- Pathogenic/Likely pathogenic
- Autosomal recessive bestrophinopathy; Autosomal dominant vitreoretinochoroidopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.90
- AlphaMissense 0.69
- MetaLR 0.98
- MetaSVM 1.06
- CADD 26.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive bestrophinopathy; Autosomal dominant vitreor)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)
- Cited in: The mutation spectrum of the bestrophin protein--functional implications. (PMID 10394929)