G24D (p.Gly24Asp) variant of APOB (Apolipoprotein B-100)
G24D (p.Gly24Asp) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- rs1245590542
- ClinGen CA345966097
- ClinVar RCV003112756
- 1000Genomes rs1245590542
- Likely benign
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.95
- CADD 15.10
- PolyPhen-2 0.12
- SIFT 0.03
- ClinVar: Likely benign (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)