W10* (p.Trp10Ter) variant of LDLR (Low-density lipoprotein receptor)
W10* (p.Trp10Ter) 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.
W10* (p.Trp10Ter) variant details
- p.Trp10Ter
- rs1568582652
- ClinGen CA404071509
- ClinVar RCV000771735
- ClinVar RCV004017730
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)