D168N (p.Asp168Asn) variant of LDLR (Low-density lipoprotein receptor)
D168N (p.Asp168Asn) 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; Familial hyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D168N (p.Asp168Asn) variant details
- p.Asp168Asn
- rs200727689
- ClinGen CA023709
- cosmic curated COSV52945
- ClinVar RCV000162017
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Homozygous familial hypercholesterolemia; Familial hyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Homozygous familial hypercholesterolem)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats. (PMID 25545329)
- Cited in: Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. (PMID 9259195)