K132T (p.Lys132Thr) variant of APOB (Apolipoprotein B-100)
K132T (p.Lys132Thr) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K132T (p.Lys132Thr) variant details
- p.Lys132Thr
- rs762667000
- ClinGen CA060241
- ClinVar RCV000985337
- ClinVar RCV002549644
- Conflicting interpretations
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.21
- MetaLR 0.17
- MetaSVM -0.86
- CADD 22.90
- PolyPhen-2 0.45
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)