P85L (p.Pro85Leu) variant of ABCA1 (O95477)
P85L (p.Pro85Leu) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hypoalphalipoproteinemia, primary, 1; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P85L (p.Pro85Leu) variant details
- p.Pro85Leu
- rs145183203
- ClinGen CA5169461
- cosmic curated COSV66059
- ClinVar RCV000288931
- Conflicting interpretations
- not provided; Hypoalphalipoproteinemia, primary, 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.84
- MetaLR 0.99
- MetaSVM 0.96
- CADD 25.10
- PolyPhen-2 0.39
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypoalphalipoproteinemia, primary, 1; Cardiovascul)
- EBI: Pathogenic (in FHA1)
- UniProt: Pathogenic (in FHA1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0054)
- Structural context available
- Cited in: ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. (PMID 12204794)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)