R13C (p.Arg13Cys) variant of BEST1 (Bestrophin-1)
R13C (p.Arg13Cys) 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; Macular dystrophy; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- rs886041141
- ClinGen CA10603118
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10007
- Pathogenic/Likely pathogenic
- not provided; Macular dystrophy; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.91
- AlphaMissense 0.18
- MetaLR 0.97
- MetaSVM 1.09
- CADD 21.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Macular dystrophy; Retinal dystrophy)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)