T19I (p.Thr19Ile) variant of LPL (Lipoprotein lipase)
T19I (p.Thr19Ile) in LPL (Lipoprotein lipase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
T19I (p.Thr19Ile) variant details
- p.Thr19Ile
- ExAC rs749739032
- gnomAD rs749739032
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- MetaLR 0.53
- MetaSVM -0.64
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available