V43L (p.Val43Leu) variant of APOA1 (Apolipoprotein A-I)
V43L (p.Val43Leu) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial visceral amyloidosis, Ostertag type; Hypoalphalipoproteinemia, primary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V43L (p.Val43Leu) variant details
- p.Val43Leu
- rs373545875
- ClinGen CA229325261
- ClinVar RCV001108697
- ClinVar RCV001108698
- Likely benign
- Familial visceral amyloidosis, Ostertag type; Hypoalphalipoproteinemia, primary
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.09
- CADD 6.99
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Likely benign (Familial visceral amyloidosis, Ostertag type; Hypoalphalipoprote)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease. (PMID 27135400)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)