K574T (p.Lys574Thr) variant of MAPT (P10636)
K574T (p.Lys574Thr) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K574T (p.Lys574Thr) variant details
- p.Lys574Thr
- rs63750129
- ClinGen CA225413
- ClinVar RCV000015328
- ClinVar RCV000084515
- Pathogenic
- Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.92
- MetaLR 0.73
- MetaSVM 0.24
- PolyPhen-2 0.51
- SIFT 0.08
- EVE 0.60
- ClinVar: Pathogenic (Pick disease)
- EBI: Pathogenic (in PIDB)
- UniProt: Pathogenic (in PIDB)
- Population evidence available
- Structural context available
- Cited in: Tau gene mutation K257T causes a tauopathy similar to Pick's disease. (PMID 11089577)
- Cited in: Pick's disease is associated with mutations in the tau gene. (PMID 11117542)