R13H (p.Arg13His) variant of BEST1 (Bestrophin-1)
R13H (p.Arg13His) 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; Autosomal recessive bestrophinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- rs281865209
- ClinGen CA227774
- NCI-TCGA Cosmic COSV5712
- cosmic curated COSV57120
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Autosomal recessive bestrophinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.72
- AlphaMissense 0.81
- MetaLR 0.96
- MetaSVM 1.09
- CADD 20.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Autosomal recessive bestrophino)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)
- Cited in: Bestrophinopathies. (PMID 20301346)