D131N (p.Asp131Asn) variant of LDLR (Low-density lipoprotein receptor)
D131N (p.Asp131Asn) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia. The record also includes structural context.
D131N (p.Asp131Asn) variant details
- p.Asp131Asn
- Ensembl rs879254511
- Uncertain significance
- Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia
- Missense
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available