G23E (p.Gly23Glu) variant of LPL (Lipoprotein lipase)
G23E (p.Gly23Glu) 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.
G23E (p.Gly23Glu) variant details
- p.Gly23Glu
- rs539997018
- ClinGen CA4655276
- ClinVar RCV003172689
- 1000Genomes rs539997018
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- MetaLR 0.44
- MetaSVM -0.69
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.73
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available