L43Q (p.Leu43Gln) variant of LPL (Lipoprotein lipase)
L43Q (p.Leu43Gln) in LPL (Lipoprotein lipase) 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 0.47 / 1. The record also includes population frequency data and structural context.
L43Q (p.Leu43Gln) variant details
- p.Leu43Gln
- rs1423027681
- ClinGen CA370466839
- ClinVar RCV002383287
- TOPMed rs1423027681
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 26.10
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available