C104R (p.Cys104Arg) variant of LDLR (Low-density lipoprotein receptor)
C104R (p.Cys104Arg) 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; Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C104R (p.Cys104Arg) variant details
- p.Cys104Arg
- rs879254464
- ClinGen CA10584837
- ClinVar RCV000238177
- ClinVar RCV001854886
- Pathogenic/Likely pathogenic
- Familial hypercholesterolemia; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.90
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hypercholesterolemia; Hypercholesterolemia, familial, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)