P4T (p.Pro4Thr) variant of MAPT (P10636)
P4T (p.Pro4Thr) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- rs974837695
- ClinGen CA291105330
- ClinVar RCV002049876
- ClinVar RCV002506868
- Uncertain significance
- Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.11
- MetaLR 0.22
- MetaSVM -0.69
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Frontotemporal dementia; Parkinson disease, late-onset; Progress)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)