K118E (p.Lys118Glu) variant of ABCA1 (O95477)
K118E (p.Lys118Glu) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypoalphalipoproteinemia, primary, 1; Tangier disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K118E (p.Lys118Glu) variant details
- p.Lys118Glu
- rs753703009
- ClinGen CA5169418
- cosmic curated COSV66057
- ClinVar RCV000285655
- Uncertain significance
- Hypoalphalipoproteinemia, primary, 1; Tangier disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- MetaLR 0.50
- MetaSVM -0.47
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Hypoalphalipoproteinemia, primary, 1; Tangier disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)
- Cited in: Tangier Disease. (PMID 31751110)