R122P (p.Arg122Pro) variant of BEST1 (Bestrophin-1)
R122P (p.Arg122Pro) 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.
R122P (p.Arg122Pro) variant details
- p.Arg122Pro
- rs767103810
- ClinGen CA380834732
- ClinVar RCV002222859
- ExAC rs767103810
- Likely pathogenic
- Autosomal recessive bestrophinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.97
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive bestrophinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)