C27* (p.Cys27Ter) variant of LDLR (Low-density lipoprotein receptor)
C27* (p.Cys27Ter) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FHCL1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data, published literature, and structural context.
C27* (p.Cys27Ter) variant details
- p.Cys27Ter
- rs2228671
- ClinGen CA10584746
- ClinVar RCV000237744
- ClinVar RCV000775250
- Pathogenic
- in FHCL1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Population evidence available
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)