V43M (p.Val43Met) variant of APOA1 (Apolipoprotein A-I)
V43M (p.Val43Met) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial visceral amyloidosis, Ostertag type; Hypoalphalipoproteinemia, primary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V43M (p.Val43Met) variant details
- p.Val43Met
- rs373545875
- ClinGen CA6289889
- ClinVar RCV002017428
- ClinVar RCV002386878
- Uncertain significance
- Familial visceral amyloidosis, Ostertag type; Hypoalphalipoproteinemia, primary
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.24
- CADD 13.70
- PolyPhen-2 0.13
- SIFT 0.16
- ClinVar: Uncertain significance (Familial visceral amyloidosis, Ostertag type; Hypoalphalipoprote)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available