C23Y (p.Cys23Tyr) variant of ABCA1 (O95477)
C23Y (p.Cys23Tyr) 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; Tangier disease; Hypoalphalipoproteinemia, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
C23Y (p.Cys23Tyr) variant details
- p.Cys23Tyr
- rs769337995
- ClinGen CA5169499
- ClinVar RCV001165521
- ClinVar RCV001165522
- Uncertain significance
- not provided; Tangier disease; Hypoalphalipoproteinemia, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.32
- CADD 26.10
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Tangier disease; Hypoalphalipoproteinemia, primary)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)
- Cited in: Tangier Disease. (PMID 31751110)