A39V (p.Ala39Val) variant of APOA1 (Apolipoprotein A-I)
A39V (p.Ala39Val) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Familial visceral amyloidosis, Ostertag type; Hypoalph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- rs746314593
- ClinGen CA6289893
- ClinVar RCV000308803
- ClinVar RCV000398922
- Conflicting interpretations
- Cardiovascular phenotype; Familial visceral amyloidosis, Ostertag type; Hypoalph
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.07
- CADD 3.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Familial visceral amyloidosis, Osterta)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)