R130S (p.Arg130Ser) variant of BEST1 (Bestrophin-1)
R130S (p.Arg130Ser) 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 not provided; Autosomal recessive bestrophinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R130S (p.Arg130Ser) variant details
- p.Arg130Ser
- rs750102662
- ClinGen CA6040747
- ClinVar RCV001236697
- ClinVar RCV001352945
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive bestrophinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.97
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive bestrophinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)