K3394T (p.Lys3394Thr) variant of APOB (Apolipoprotein B-100)
K3394T (p.Lys3394Thr) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The record also includes variant effect predictions, published literature, and structural context.
K3394T (p.Lys3394Thr) variant details
- p.Lys3394Thr
- rs1663150812
- ClinGen CA345987172
- ClinVar RCV001838502
- Ensembl rs1663150812
- Likely pathogenic
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- MutPred 0.46
- ClinVar: Likely pathogenic (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)