Q653H (p.Gln653His) variant of MAPT (P10636)
Q653H (p.Gln653His) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q653H (p.Gln653His) variant details
- p.Gln653His
- rs1598408073
- ClinGen CA399983634
- ClinVar RCV000823456
- Ensembl rs1598408073
- Pathogenic/Likely pathogenic
- Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- AlphaMissense 0.53
- MetaLR 0.64
- MetaSVM 0.19
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.29
- ClinVar: Pathogenic/Likely pathogenic (Frontotemporal dementia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)