R83S (p.Arg83Ser) variant of ABCA1 (O95477)
R83S (p.Arg83Ser) 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 0.79 / 1. The record also includes population frequency data and structural context.
R83S (p.Arg83Ser) variant details
- p.Arg83Ser
- TOPMed rs1408254842
- gnomAD rs1408254842
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.77
- MetaLR 0.94
- MetaSVM 1.09
- CADD 23.90
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available