R218S (p.Arg218Ser) variant of BEST1 (Bestrophin-1)
R218S (p.Arg218Ser) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy; Vitelliform macular dystrophy 2. 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.
R218S (p.Arg218Ser) variant details
- p.Arg218Ser
- rs281865238
- ClinGen CA227794
- ClinVar RCV000086149
- ClinVar RCV002468566
- Likely pathogenic
- Retinal dystrophy; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.91
- AlphaMissense 0.69
- MetaLR 0.98
- MetaSVM 1.06
- CADD 24.70
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Retinal dystrophy; Vitelliform macular dystrophy 2)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: The mutation spectrum of the bestrophin protein--functional implications. (PMID 10394929)
- Cited in: Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult… (PMID 10854112)