R105S (p.Arg105Ser) variant of BEST1 (Bestrophin-1)
R105S (p.Arg105Ser) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R105S (p.Arg105Ser) variant details
- p.Arg105Ser
- rs281865273
- ClinGen CA380834264
- ClinVar RCV002025371
- ClinVar RCV004699612
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive bestrophinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.91
- AlphaMissense 0.44
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive bestrophinopathy)
- EBI: Pathogenic (in age-related macular degeneration)
- UniProt: Pathogenic (in age-related macular degeneration)
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)