D354G (p.Asp354Gly) variant of LDLR (Low-density lipoprotein receptor)
D354G (p.Asp354Gly) 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 not provided; Homozygous familial hypercholesterolemia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D354G (p.Asp354Gly) variant details
- p.Asp354Gly
- rs755449669
- ClinGen CA031858
- ClinVar RCV000237417
- ClinVar RCV000775053
- Pathogenic/Likely pathogenic
- not provided; Homozygous familial hypercholesterolemia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Homozygous familial hypercholesterolemia; Cardiova)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. (PMID 1301956)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)