N564H (p.Asn564His) variant of LDLR (Low-density lipoprotein receptor)
N564H (p.Asn564His) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Homozygous familial hypercholesterolemia; Hypercholesterolemia, familial, 1; Fam. 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.
N564H (p.Asn564His) variant details
- p.Asn564His
- rs397509365
- ClinGen CA023549
- ClinVar RCV000003935
- ClinVar RCV000211626
- Conflicting interpretations
- Homozygous familial hypercholesterolemia; Hypercholesterolemia, familial, 1; Fam
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Familial hypercholesterolemia; not spe)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations.… (PMID 10090484)
- Cited in: Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous… (PMID 10532689)