D29E (p.Asp29Glu) variant of LPL (Lipoprotein lipase)
D29E (p.Asp29Glu) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- Ensembl rs1563561734
- Uncertain significance
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- MetaLR 0.43
- MetaSVM -0.74
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Hyperlipoproteinemia, type I)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available