G478R (p.Gly478Arg) variant of LDLR (Low-density lipoprotein receptor)
G478R (p.Gly478Arg) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G478R (p.Gly478Arg) variant details
- p.Gly478Arg
- rs144614838
- ClinGen CA023495
- cosmic curated COSV52941
- ClinVar RCV000211688
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.08
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. (PMID 1301956)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)