R416W (p.Arg416Trp) variant of LDLR (Low-density lipoprotein receptor)
R416W (p.Arg416Trp) 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; Homozygous familial hypercholesterolemia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R416W (p.Arg416Trp) variant details
- p.Arg416Trp
- rs570942190
- ClinGen CA023441
- cosmic curated COSV10725
- ClinVar RCV000161982
- Pathogenic/Likely pathogenic
- Dyslipidemia; Homozygous familial hypercholesterolemia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dyslipidemia; Homozygous familial hypercholesterolemia; Cardiova)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. (PMID 19318025)
- Cited in: Functional characterization and classification of frequent low-density lipoprotein receptor variants. (PMID 25378237)