C109R (p.Cys109Arg) variant of LDLR (Low-density lipoprotein receptor)
C109R (p.Cys109Arg) 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 Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
C109R (p.Cys109Arg) variant details
- p.Cys109Arg
- rs140807148
- ClinGen CA10584855
- ClinVar RCV000237408
- ClinVar RCV002321915
- Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. (PMID 1301956)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)