E208K (p.Glu208Lys) variant of LDLR (Low-density lipoprotein receptor)
E208K (p.Glu208Lys) 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 Homozygous familial hypercholesterolemia; LDLR-related disorder; Cardiovascular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E208K (p.Glu208Lys) variant details
- p.Glu208Lys
- rs879254597
- ClinGen CA10585018
- ClinVar RCV000238110
- ClinVar RCV000775045
- Pathogenic/Likely pathogenic
- Homozygous familial hypercholesterolemia; LDLR-related disorder; Cardiovascular
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- AlphaMissense 0.54
- MetaLR 0.89
- MetaSVM 0.94
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.09
- ClinVar: Pathogenic/Likely pathogenic (Homozygous familial hypercholesterolemia; LDLR-related disorder;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)