P105T (p.Pro105Thr) variant of PRNP (Major prion protein)
P105T (p.Pro105Thr) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spongiform encephalopathy with neuropsychiatric features. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
P105T (p.Pro105Thr) variant details
- p.Pro105Thr
- rs74315414
- ClinGen CA123097
- ClinVar RCV000014355
- gnomAD rs74315414
- Pathogenic
- Spongiform encephalopathy with neuropsychiatric features
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.47
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.39
- ClinVar: Pathogenic (Spongiform encephalopathy with neuropsychiatric features)
- EBI: Pathogenic (in GSD)
- UniProt: Pathogenic (in GSD)
- Structural context available
- Cited in: Childhood onset in familial prion disease with a novel mutation in the PRNP gene. (PMID 16831973)