D2N (p.Asp2Asn) variant of APOB (Apolipoprotein B-100)
D2N (p.Asp2Asn) 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 Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- rs1664204375
- ClinGen CA345966497
- ClinVar RCV003786423
- gnomAD rs1664204375
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -0.96
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)