D178N (p.Asp178Asn) variant of PRNP (Major prion protein)
D178N (p.Asp178Asn) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spongiform encephalopathy with neuropsychiatric features; Gerstmann-Straussler-S. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D178N (p.Asp178Asn) variant details
- p.Asp178Asn
- rs74315403
- ClinGen CA261110
- ClinVar RCV000014336
- ClinVar RCV000014337
- Pathogenic/Likely pathogenic
- Spongiform encephalopathy with neuropsychiatric features; Gerstmann-Straussler-S
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.73
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Spongiform encephalopathy with neuropsychiatric features; Gerstm)
- EBI: Pathogenic (in FFI and CJD)
- UniProt: Pathogenic (in FFI and CJD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the… (PMID 10581230)
- Cited in: Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy. (PMID 12205650)