E31* (p.Glu31Ter) variant of LDLR (Low-density lipoprotein receptor)
E31* (p.Glu31Ter) 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 0.69 / 1. The record also includes published literature and structural context.
E31* (p.Glu31Ter) variant details
- p.Glu31Ter
- rs776421777
- ClinGen CA10584748
- ClinVar RCV000238408
- ClinVar RCV001532988
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.31
- MetaLR 0.89
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.29
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)