T19D (p.Thr19Asp) variant of LPL (Lipoprotein lipase)
T19D (p.Thr19Asp) in LPL (Lipoprotein lipase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T19D (p.Thr19Asp) variant details
- p.Thr19Asp
- rs1228659919
- gnomAD 8-19939492-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available