W4* (p.Trp4Ter) variant of LDLR (Low-density lipoprotein receptor)
W4* (p.Trp4Ter) in LDLR (Low-density lipoprotein receptor) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
W4* (p.Trp4Ter) variant details
- p.Trp4Ter
- rs201016593
- ClinGen CA10584724
- ClinVar RCV000237276
- ClinVar RCV001221497
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 31.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)