P65L (p.Pro65Leu) variant of APOB (Apolipoprotein B-100)
P65L (p.Pro65Leu) 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 hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The record also includes published literature and structural context.
P65L (p.Pro65Leu) variant details
- p.Pro65Leu
- rs1224871215
- ClinGen CA345965117
- ClinVar RCV002028206
- gnomAD rs1224871215
- Uncertain significance
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- ClinVar: Uncertain significance (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)