C216R (p.Cys216Arg) variant of LDLR (Low-density lipoprotein receptor)
C216R (p.Cys216Arg) 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; Familial hypercholesterolemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C216R (p.Cys216Arg) variant details
- p.Cys216Arg
- rs879254610
- ClinGen CA10585033
- ClinVar RCV000238105
- ClinVar RCV002356333
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Familial hypercholesterolemia; not pro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)