R83C (p.Arg83Cys) variant of ABCA1 (O95477)
R83C (p.Arg83Cys) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R83C (p.Arg83Cys) variant details
- p.Arg83Cys
- cosmic curated COSV10531
- TOPMed rs1408254842
- gnomAD rs1408254842
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.89
- MetaLR 0.96
- MetaSVM 1.11
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available