G546V (p.Gly546Val) variant of LDLR (Low-density lipoprotein receptor)
G546V (p.Gly546Val) 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 Cardiovascular phenotype; not provided; Homozygous familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G546V (p.Gly546Val) variant details
- p.Gly546Val
- rs28942081
- ClinGen CA10585538
- NCI-TCGA Cosmic COSV9936
- cosmic curated COSV99369
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Homozygous familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Homozygous familial hype)
- EBI: Pathogenic (in Saint Omer)
- UniProt: Pathogenic (in Saint Omer)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)