W14* (p.Trp14Ter) variant of LPL (Lipoprotein lipase)
W14* (p.Trp14Ter) in LPL (Lipoprotein lipase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
W14* (p.Trp14Ter) variant details
- p.Trp14Ter
- rs1590134297
- ClinGen CA370464663
- ClinVar RCV000796878
- Ensembl rs1590134297
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.871
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available