E200K (p.Glu200Lys) variant of PRNP (Major prion protein)
E200K (p.Glu200Lys) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kuru, susceptibility to; Huntington disease-like 1; Spongiform encephalopathy wi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E200K (p.Glu200Lys) variant details
- p.Glu200Lys
- rs28933385
- ClinGen CA256778
- cosmic curated COSV10971
- ClinVar RCV000014334
- Pathogenic
- Kuru, susceptibility to; Huntington disease-like 1; Spongiform encephalopathy wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.76
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Kuru, susceptibility to; Huntington disease-like 1; Spongiform e)
- EBI: Pathogenic (in CJD)
- UniProt: Pathogenic (in CJD)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. (PMID 10090891)
- Cited in: Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation. (PMID 10665501)