D139E (p.Asp139Glu) variant of LDLR (Low-density lipoprotein receptor)
D139E (p.Asp139Glu) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D139E (p.Asp139Glu) variant details
- p.Asp139Glu
- rs537484504
- ClinGen CA10576282
- ClinVar RCV000211617
- ClinVar RCV006277752
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- CADD 17.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Dyslipidemia; Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)