S1524F (p.Ser1524Phe) variant of APOB (Apolipoprotein B-100)
S1524F (p.Ser1524Phe) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypobetalipoproteinemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
S1524F (p.Ser1524Phe) variant details
- p.Ser1524Phe
- rs1572785480
- ClinGen CA346006597
- ClinVar RCV001027452
- Ensembl rs1572785480
- Likely pathogenic
- Familial hypobetalipoproteinemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.57
- MetaLR 0.01
- MetaSVM -0.87
- SIFT 0.01
- MutPred 0.35
- ClinVar: Likely pathogenic (Familial hypobetalipoproteinemia 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)