C197G (p.Cys197Gly) variant of LDLR (Low-density lipoprotein receptor)
C197G (p.Cys197Gly) 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 Homozygous familial hypercholesterolemia; Cardiovascular phenotype; Familial hyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C197G (p.Cys197Gly) variant details
- p.Cys197Gly
- rs730882085
- ClinGen CA10584999
- ClinVar RCV000237260
- ClinVar RCV000490241
- Pathogenic/Likely pathogenic
- Homozygous familial hypercholesterolemia; Cardiovascular phenotype; Familial hyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Homozygous familial hypercholesterolemia; Cardiovascular phenoty)
- 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)