C313R (p.Cys313Arg) variant of LDLR (Low-density lipoprotein receptor)
C313R (p.Cys313Arg) 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 0.97 / 1. The record also includes published literature and structural context.
C313R (p.Cys313Arg) variant details
- p.Cys313Arg
- rs879254728
- ClinGen CA10585207
- ClinVar RCV000238218
- Ensembl rs879254728
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Likely pathogenic (in FHCL1)
- UniProt: Likely pathogenic (in FHCL1)
- Structural context available
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)
- Cited in: Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance… (PMID 21600525)