C95G (p.Cys95Gly) variant of LDLR (Low-density lipoprotein receptor)
C95G (p.Cys95Gly) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C95G (p.Cys95Gly) variant details
- p.Cys95Gly
- rs879254456
- ClinGen CA10584825
- cosmic curated COSV52941
- ClinVar RCV000238124
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial… (PMID 10206683)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)