R126C (p.Arg126Cys) variant of ABCA1 (O95477)
R126C (p.Arg126Cys) 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; Hypoalphalipoproteinemia, primary, 1; Tangier disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R126C (p.Arg126Cys) variant details
- p.Arg126Cys
- rs1286945641
- ClinGen CA374315969
- ClinVar RCV001167635
- ClinVar RCV001167636
- Uncertain significance
- not provided; Hypoalphalipoproteinemia, primary, 1; Tangier disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.26
- MetaLR 0.80
- MetaSVM 0.75
- CADD 21.90
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hypoalphalipoproteinemia, primary, 1; Tangier dise)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)
- Cited in: Tangier Disease. (PMID 31751110)