R111S (p.Arg111Ser) variant of ABCA1 (O95477)
R111S (p.Arg111Ser) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R111S (p.Arg111Ser) variant details
- p.Arg111Ser
- 1000Genomes rs543312335
- ExAC rs543312335
- TOPMed rs543312335
- gnomAD rs543312335
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.47
- MetaLR 0.80
- MetaSVM 0.31
- CADD 11.70
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0055)
- Structural context available