D33H (p.Asp33His) variant of LPL (Lipoprotein lipase)
D33H (p.Asp33His) 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 0.67 / 1. The record also includes population frequency data and structural context.
D33H (p.Asp33His) variant details
- p.Asp33His
- rs2069900175
- ClinGen CA370466769
- ClinVar RCV004522838
- Ensembl rs2069900175
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 24.90
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available