C134F (p.Cys134Phe) variant of LDLR (Low-density lipoprotein receptor)
C134F (p.Cys134Phe) 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 0.96 / 1. The record also includes published literature and structural context.
C134F (p.Cys134Phe) variant details
- p.Cys134Phe
- rs879254514
- ClinGen CA10584903
- ClinVar RCV000237376
- ClinVar RCV000775037
- Pathogenic/Likely pathogenic
- Familial hypercholesterolemia; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Familial hypercholesterolemia; Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a… (PMID 10978268)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)