R25Q (p.Arg25Gln) variant of BEST1 (Bestrophin-1)
R25Q (p.Arg25Gln) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- rs281865215
- ClinGen CA227818
- ClinVar RCV000086170
- ClinVar RCV001002887
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Autosomal recessive bestrophinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.77
- CADD 20.50
- PolyPhen-2 0.93
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Autosomal recessive bestrophino)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular… (PMID 9700209)
- Cited in: Bestrophinopathies. (PMID 20301346)