E28* (p.Glu28Ter) variant of LDLR (Low-density lipoprotein receptor)
E28* (p.Glu28Ter) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- rs551747280
- ClinGen CA10576267
- ClinVar RCV000211620
- 1000Genomes rs551747280
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.831
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)
- Cited in: Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance… (PMID 21600525)