C39F (p.Cys39Phe) variant of LDLR (Low-density lipoprotein receptor)
C39F (p.Cys39Phe) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
C39F (p.Cys39Phe) variant details
- p.Cys39Phe
- rs1131692189
- ClinGen CA404074745
- ClinVar RCV000495891
- Ensembl rs1131692189
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)