H48Q (p.His48Gln) variant of APOB (Apolipoprotein B-100)
H48Q (p.His48Gln) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H48Q (p.His48Gln) variant details
- p.His48Gln
- rs1404729103
- ClinGen CA345965253
- ClinVar RCV003785661
- TOPMed rs1404729103
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.08
- CADD 24.30
- PolyPhen-2 0.77
- SIFT 0.03
- ClinVar: Uncertain significance (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)