R92L (p.Arg92Leu) variant of BEST1 (Bestrophin-1)
R92L (p.Arg92Leu) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive bestrophinopathy. 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.
R92L (p.Arg92Leu) variant details
- p.Arg92Leu
- rs281865225
- ClinGen CA380834030
- ClinVar RCV000625593
- TOPMed rs281865225
- Likely pathogenic
- Autosomal recessive bestrophinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.98
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive bestrophinopathy)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)