C27W (p.Cys27Trp) variant of LDLR (Low-density lipoprotein receptor)
C27W (p.Cys27Trp) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
C27W (p.Cys27Trp) variant details
- p.Cys27Trp
- rs2228671
- ClinGen CA041664
- ClinVar RCV000211569
- ClinVar RCV000588365
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.10
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. (PMID 9259195)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)