K3394N (p.Lys3394Asn) variant of APOB (Apolipoprotein B-100)
K3394N (p.Lys3394Asn) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hypercholesterolemia; not provided; Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K3394N (p.Lys3394Asn) variant details
- p.Lys3394Asn
- rs1382988295
- ClinGen CA345987169
- ClinVar RCV000505259
- ClinVar RCV001837941
- Pathogenic
- Familial hypercholesterolemia; not provided; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.28
- MetaLR 0.30
- MetaSVM -0.49
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)
- Cited in: Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance… (PMID 21600525)