D172N (p.Asp172Asn) variant of LDLR (Low-density lipoprotein receptor)
D172N (p.Asp172Asn) 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; Cardiovascular phenotype; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D172N (p.Asp172Asn) variant details
- p.Asp172Asn
- rs879254554
- ClinGen CA10584957
- ClinVar RCV000238587
- ClinVar RCV001385842
- Pathogenic/Likely pathogenic
- Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dyslipidemia; Cardiovascular phenotype; Familial hypercholestero)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous… (PMID 10532689)
- Cited in: Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats. (PMID 25545329)