R47H (p.Arg47His) variant of BEST1 (Bestrophin-1)
R47H (p.Arg47His) 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 Retinitis pigmentosa 50; Vitelliform macular dystrophy 2; Autosomal recessive be. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R47H (p.Arg47His) variant details
- p.Arg47His
- rs28940278
- ClinGen CA227724
- NCI-TCGA Cosmic COSV5712
- cosmic curated COSV57122
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 50; Vitelliform macular dystrophy 2; Autosomal recessive be
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.70
- AlphaMissense 0.28
- MetaLR 0.93
- MetaSVM 1.11
- CADD 16.60
- PolyPhen-2 0.67
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 50; Vitelliform macular dystrophy 2; Autoso)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult… (PMID 10854112)
- Cited in: Bestrophinopathies. (PMID 20301346)