G373D (p.Gly373Asp) variant of LDLR (Low-density lipoprotein receptor)
G373D (p.Gly373Asp) 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 Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G373D (p.Gly373Asp) variant details
- p.Gly373Asp
- rs879254797
- ClinGen CA10585312
- ClinVar RCV000237895
- ClinVar RCV000791447
- Pathogenic/Likely pathogenic
- Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.64
- MetaLR 0.99
- MetaSVM 1.01
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dyslipidemia; Cardiovascular phenotype; Familial hypercholestero)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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: Familial Hypercholesterolemia. (PMID 24404629)