V352F (p.Val352Phe) variant of APOB (Apolipoprotein B-100)
V352F (p.Val352Phe) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V352F (p.Val352Phe) variant details
- p.Val352Phe
- rs1572799173
- ClinGen CA345958671
- NCI-TCGA Cosmic COSV5193
- ClinVar RCV001027458
- Likely pathogenic
- Familial hypobetalipoproteinemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.50
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hypobetalipoproteinemia 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)