D178E (p.Asp178Glu) variant of LDLR (Low-density lipoprotein receptor)
D178E (p.Asp178Glu) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Dyslipidemia; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
D178E (p.Asp178Glu) variant details
- p.Asp178Glu
- rs879254566
- ClinGen CA10584978
- ClinVar RCV000237578
- ClinVar RCV001201350
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Dyslipidemia; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Dyslipidemia; Familial hypercholestero)
- 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)