N118K (p.Asn118Lys) variant of APOB (Apolipoprotein B-100)
N118K (p.Asn118Lys) 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 Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N118K (p.Asn118Lys) variant details
- p.Asn118Lys
- rs781633079
- ClinGen CA059135
- ClinVar RCV000264529
- ClinVar RCV000377892
- Conflicting interpretations
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.17
- MetaLR 0.21
- MetaSVM -0.75
- CADD 24.40
- PolyPhen-2 0.31
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)