E408V (p.Glu408Val) variant of LDLR (Low-density lipoprotein receptor)
E408V (p.Glu408Val) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
E408V (p.Glu408Val) variant details
- p.Glu408Val
- rs879254838
- ClinGen CA10585364
- ClinVar RCV000237375
- ClinVar RCV001235902
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 0.58
- MetaLR 0.83
- MetaSVM 0.83
- PolyPhen-2 0.87
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)