T45S (p.Thr45Ser) variant of LPL (Lipoprotein lipase)
T45S (p.Thr45Ser) 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 0.61 / 1. The record also includes population frequency data and structural context.
T45S (p.Thr45Ser) variant details
- p.Thr45Ser
- ESP rs143944126
- ExAC rs143944126
- TOPMed rs143944126
- gnomAD rs143944126
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 22.60
- PolyPhen-2 0.43
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available