T183A (p.Thr183Ala) variant of PRNP (Major prion protein)
T183A (p.Thr183Ala) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Huntington disease-like 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
T183A (p.Thr183Ala) variant details
- p.Thr183Ala
- rs74315411
- ClinGen CA123090
- ClinVar RCV000014347
- ClinVar RCV003514300
- Pathogenic
- not provided; Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Pathogenic (not provided; Huntington disease-like 1)
- EBI: Pathogenic (in SENF and early-onset dementia)
- UniProt: Pathogenic (in SENF and early-onset dementia)
- Structural context available
- Cited in: High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four… (PMID 10631141)
- Cited in: The Thr183Ala Mutation, Not the Loss of the First Glycosylation Site, Alters the Physical Properties of the Prion… (PMID 12214108)