P3Q (p.Pro3Gln) variant of APOB (Apolipoprotein B-100)
P3Q (p.Pro3Gln) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P3Q (p.Pro3Gln) variant details
- p.Pro3Gln
- rs2465464345
- ClinGen CA2825001045
- ClinVar RCV004525530
- ClinVar RCV006564918
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -1.01
- CADD 17.50
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)