A43V (p.Ala43Val) variant of APOB (Apolipoprotein B-100)
A43V (p.Ala43Val) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypercholesterolemia. The record also includes published literature and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- rs780841518
- ClinGen CA345965285
- NCI-TCGA Cosmic COSV5192
- cosmic curated COSV51922
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)