T19N (p.Thr19Asn) variant of LPL (Lipoprotein lipase)
T19N (p.Thr19Asn) 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 0.64 / 1. The record also includes population frequency data and structural context.
T19N (p.Thr19Asn) variant details
- p.Thr19Asn
- rs749739032
- ClinGen CA370464728
- ClinVar RCV002347548
- ExAC rs749739032
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- MetaLR 0.55
- MetaSVM -0.50
- CADD 18.10
- PolyPhen-2 0.26
- SIFT 0.43
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available