C276R (p.Cys276Arg) variant of LDLR (Low-density lipoprotein receptor)
C276R (p.Cys276Arg) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C276R (p.Cys276Arg) variant details
- p.Cys276Arg
- rs879254692
- ClinGen CA10585154
- ClinVar RCV000238233
- ClinVar RCV001384762
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a… (PMID 10978268)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)