C89W (p.Cys89Trp) variant of LDLR (Low-density lipoprotein receptor)
C89W (p.Cys89Trp) 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; Cardiovascular phenotype; Hypercholesterolemia, f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
C89W (p.Cys89Trp) variant details
- p.Cys89Trp
- rs777640882
- ClinGen CA10584819
- ClinVar RCV000237969
- ClinVar RCV002429167
- Pathogenic/Likely pathogenic
- Familial hypercholesterolemia; Cardiovascular phenotype; Hypercholesterolemia, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Familial hypercholesterolemia; Cardiovascular phenotype; Hyperch)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)