T30I (p.Thr30Ile) variant of MAPT (P10636)
T30I (p.Thr30Ile) 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; Supranuclear palsy, progressive, 1; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T30I (p.Thr30Ile) variant details
- p.Thr30Ile
- rs374996228
- ClinGen CA8617513
- ClinVar RCV001229146
- ClinVar RCV002491726
- Uncertain significance
- Frontotemporal dementia; Supranuclear palsy, progressive, 1; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.11
- MetaLR 0.15
- MetaSVM -0.94
- CADD 18.40
- PolyPhen-2 0.99
- SIFT 0.13
- ClinVar: Uncertain significance (Frontotemporal dementia; Supranuclear palsy, progressive, 1; Pic)
- EBI: Variant of uncertain significance (in dbSNP:rs748728879)
- UniProt: Uncertain significance (in dbSNP:rs748728879)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)