R416Q (p.Arg416Gln) variant of LDLR (Low-density lipoprotein receptor)
R416Q (p.Arg416Gln) 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; Homozygous familial hypercholesterolemia; Hypercholest. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R416Q (p.Arg416Gln) variant details
- p.Arg416Gln
- rs773658037
- ClinGen CA033210
- NCI-TCGA Cosmic COSV5294
- cosmic curated COSV52941
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Homozygous familial hypercholesterolemia; Hypercholest
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- AlphaMissense 0.64
- MetaLR 0.79
- MetaSVM 0.67
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Homozygous familial hypercholesterolem)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial… (PMID 9452095)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)