R218H (p.Arg218His) variant of BEST1 (Bestrophin-1)
R218H (p.Arg218His) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R218H (p.Arg218His) variant details
- p.Arg218His
- rs281865239
- ClinGen CA227796
- 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 0.767
- REVEL 0.92
- AlphaMissense 0.54
- MetaLR 0.98
- MetaSVM 1.06
- CADD 29.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Vitelliform macular dystrophy 2)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (PMID 10798642)
- Cited in: Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. (PMID 11241846)