C116F (p.Cys116Phe) variant of LDLR (Low-density lipoprotein receptor)
C116F (p.Cys116Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C116F (p.Cys116Phe) variant details
- p.Cys116Phe
- rs879254485
- ClinGen CA10584863
- ClinVar RCV000237790
- Ensembl rs879254485
- Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Familial hypercholesterolemia)
- 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)