T211K (p.Thr211Lys) variant of LPL (Lipoprotein lipase)
T211K (p.Thr211Lys) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
T211K (p.Thr211Lys) variant details
- p.Thr211Lys
- gnomAD rs1478754328
- Likely pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperlipoproteinemia, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)