N106K (p.Asn106Lys) variant of APOB (Apolipoprotein B-100)
N106K (p.Asn106Lys) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N106K (p.Asn106Lys) variant details
- p.Asn106Lys
- rs371662800
- ClinGen CA345963990
- ClinVar RCV004305007
- ClinGen CA058201
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.14
- MetaLR 0.15
- MetaSVM -0.92
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Benign
- UniProt: 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)