V180I (p.Val180Ile) variant of PRNP (Major prion protein)
V180I (p.Val180Ile) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic/pathogenic, low pen in the context of Huntington disease-like 1; Fatal familial insomnia; Gerstmann-Straussler-Scheink. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V180I (p.Val180Ile) variant details
- p.Val180Ile
- rs74315408
- ClinGen CA256782
- cosmic curated COSV65174
- ClinVar RCV000014344
- Pathogenic/Likely pathogenic/Pathogenic, low pen
- Huntington disease-like 1; Fatal familial insomnia; Gerstmann-Straussler-Scheink
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.62
- CADD 21.10
- PolyPhen-2 0.10
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic/Pathogenic, low pen (Huntington disease-like 1; Fatal familial insomnia; Gerstmann-St)
- EBI: Pathogenic (in CJD)
- UniProt: Pathogenic (in CJD)
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. (PMID 1439789)
- Cited in: Clinical features of Creutzfeldt-Jakob disease with V180I mutation. (PMID 14872044)