L18Q (p.Leu18Gln) variant of APOB (Apolipoprotein B-100)
L18Q (p.Leu18Gln) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L18Q (p.Leu18Gln) variant details
- p.Leu18Gln
- rs1664200226
- ClinGen CA345966156
- ClinVar RCV002347265
- gnomAD rs1664200226
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.13
- MetaLR 0.01
- MetaSVM -0.99
- CADD 23.60
- PolyPhen-2 0.88
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available