F2009S (p.Phe2009Ser) variant of ABCA1 (O95477)
F2009S (p.Phe2009Ser) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypoalphalipoproteinemia, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
F2009S (p.Phe2009Ser) variant details
- p.Phe2009Ser
- rs137854499
- ClinGen CA120490
- ClinVar RCV000010110
- UniProt VAR 037971
- Pathogenic
- Hypoalphalipoproteinemia, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.79
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Hypoalphalipoproteinemia, primary, 1)
- EBI: Pathogenic (in FHA1)
- UniProt: Pathogenic (in FHA1)
- Structural context available
- Cited in: Novel ABCA1 compound variant associated with HDL cholesterol deficiency. (PMID 12009425)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)