C160G (p.Cys160Gly) variant of LDLR (Low-density lipoprotein receptor)
C160G (p.Cys160Gly) 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 Familial hypercholesterolemia; Cardiovascular phenotype; Hypercholesterolemia, f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C160G (p.Cys160Gly) variant details
- p.Cys160Gly
- rs879254540
- ClinGen CA10584940
- ClinVar RCV000237986
- ClinVar RCV002338780
- Pathogenic/Likely pathogenic
- Familial hypercholesterolemia; Cardiovascular phenotype; Hypercholesterolemia, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Familial hypercholesterolemia; Cardiovascular phenotype; Hyperch)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)