G545E (p.Gly545Glu) variant of LDLR (Low-density lipoprotein receptor)
G545E (p.Gly545Glu) 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; Familial hypercholesterolemia; Hyperch. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G545E (p.Gly545Glu) variant details
- p.Gly545Glu
- rs759876319
- ClinGen CA035471
- ClinVar RCV000237131
- ClinVar RCV000586212
- Pathogenic/Likely pathogenic
- Homozygous familial hypercholesterolemia; Familial hypercholesterolemia; Hyperch
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 25.40
- PolyPhen-2 0.82
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Homozygous familial hypercholesterolemia; Familial hypercholeste)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)