Q96H (p.Gln96His) variant of APOB (Apolipoprotein B-100)
Q96H (p.Gln96His) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q96H (p.Gln96His) variant details
- p.Gln96His
- rs186544754
- ClinGen CA057476
- ClinVar RCV000289349
- ClinVar RCV000344371
- Conflicting interpretations
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.97
- CADD 20.20
- PolyPhen-2 0.99
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)