C116R (p.Cys116Arg) variant of LDLR (Low-density lipoprotein receptor)
C116R (p.Cys116Arg) 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 Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C116R (p.Cys116Arg) variant details
- p.Cys116Arg
- rs879254482
- ClinGen CA10584862
- ClinVar RCV000237774
- ClinVar RCV001804973
- Pathogenic/Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Familial hypercholesterolemia; not provided; Hypercholesterolemi)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial… (PMID 10206683)
- Cited in: Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats. (PMID 25545329)