R104C (p.Arg104Cys) variant of ABCA1 (O95477)
R104C (p.Arg104Cys) in ABCA1 (O95477) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
R104C (p.Arg104Cys) variant details
- p.Arg104Cys
- rs141348278
- cosmic curated COSV66058
- ESP rs141348278
- TOPMed rs141348278
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.94
- MetaLR 0.94
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available