G549D (p.Gly549Asp) variant of LDLR (Low-density lipoprotein receptor)
G549D (p.Gly549Asp) 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; Dyslipidemia; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G549D (p.Gly549Asp) variant details
- p.Gly549Asp
- rs28941776
- ClinGen CA023546
- ClinVar RCV000003886
- ClinVar RCV000161997
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Dyslipidemia; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Dyslipidemia; Familial hypercholestero)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to… (PMID 24529145)
- Cited in: Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not… (PMID 3263645)