L14* (p.Leu14Ter) variant of LDLR (Low-density lipoprotein receptor)
L14* (p.Leu14Ter) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
L14* (p.Leu14Ter) variant details
- p.Leu14Ter
- rs1600683731
- ClinGen CA404071622
- ClinVar RCV000822108
- ClinVar RCV005589904
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)