K132R (p.Lys132Arg) variant of APOB (Apolipoprotein B-100)
K132R (p.Lys132Arg) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
K132R (p.Lys132Arg) variant details
- p.Lys132Arg
- rs762667000
- ClinVar RCV004989248
- ExAC rs762667000
- gnomAD rs762667000
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.03
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available