D266E (p.Asp266Glu) variant of LDLR (Low-density lipoprotein receptor)
D266E (p.Asp266Glu) 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 Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D266E (p.Asp266Glu) variant details
- p.Asp266Glu
- rs139043155
- ClinGen CA023765
- ClinVar RCV000162020
- ClinVar RCV000172959
- Pathogenic/Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 15.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dyslipidemia; Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. (PMID 1301956)
- Cited in: Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of… (PMID 17347910)