T30K (p.Thr30Lys) variant of MAPT (P10636)
T30K (p.Thr30Lys) 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. The record also includes published literature and structural context.
T30K (p.Thr30Lys) variant details
- p.Thr30Lys
- rs2509443882
- ClinGen CA2580094031
- ClinVar RCV002304743
- Uncertain significance
- Frontotemporal dementia
- Missense
- ClinVar: Uncertain significance (Frontotemporal dementia)
- EBI: Variant of uncertain significance (in dbSNP:rs748728879)
- UniProt: Uncertain significance (in dbSNP:rs748728879)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)