A73D (p.Ala73Asp) variant of APOB (Apolipoprotein B-100)
A73D (p.Ala73Asp) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A73D (p.Ala73Asp) variant details
- p.Ala73Asp
- rs377171241
- ClinGen CA055521
- ClinVar RCV000660674
- ClinVar RCV001182967
- Conflicting interpretations
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.13
- MetaLR 0.11
- MetaSVM -0.99
- CADD 22.20
- PolyPhen-2 0.37
- SIFT 0.01
- 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 9.9e-07)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)