E211Q (p.Glu211Gln) variant of PRNP (Major prion protein)
E211Q (p.Glu211Gln) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inherited Creutzfeldt-Jakob disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
E211Q (p.Glu211Gln) variant details
- p.Glu211Gln
- rs398122370
- ClinGen CA266210
- ClinVar RCV000074468
- UniProt VAR 008752
- Pathogenic
- Inherited Creutzfeldt-Jakob disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- AlphaMissense 0.25
- MetaLR 0.86
- MetaSVM 0.97
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.09
- ClinVar: Pathogenic (Inherited Creutzfeldt-Jakob disease)
- EBI: Pathogenic (in CJD)
- UniProt: Pathogenic (in CJD)
- Structural context available
- Cited in: Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion… (PMID 10790216)
- Cited in: Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism… (PMID 22965875)