G24S (p.Gly24Ser) variant of APOB (Apolipoprotein B-100)
G24S (p.Gly24Ser) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- TOPMed rs1481244657
- gnomAD rs1481244657
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0776
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.92
- CADD 8.11
- PolyPhen-2 0.01
- SIFT 0.43
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available