R141H (p.Arg141His) variant of BEST1 (Bestrophin-1)
R141H (p.Arg141His) 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 BEST1-related dominant retinopathy; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R141H (p.Arg141His) variant details
- p.Arg141His
- rs121918284
- ClinGen CA115724
- ClinVar RCV000002862
- ClinVar RCV000002863
- Pathogenic/Likely pathogenic
- BEST1-related dominant retinopathy; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.98
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (BEST1-related dominant retinopathy; Retinal dystrophy; not provi)
- EBI: Pathogenic (in VMD2 and ARB)
- UniProt: Pathogenic (in VMD2 and ARB)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (PMID 10798642)
- Cited in: Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. (PMID 16754206)