K51Q (p.Lys51Gln) variant of APOB (Apolipoprotein B-100)
K51Q (p.Lys51Gln) 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.
K51Q (p.Lys51Gln) variant details
- p.Lys51Gln
- rs1664155102
- ClinGen CA345965241
- ClinVar RCV001838368
- Ensembl rs1664155102
- 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)