G652S (p.Gly652Ser) variant of MAPT (P10636)
G652S (p.Gly652Ser) 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 0.96 / 1. The record also includes published literature and structural context.
G652S (p.Gly652Ser) variant details
- p.Gly652Ser
- rs63750095
- ClinGen CA225477
- ClinVar RCV000084545
- ClinVar RCV003514309
- Pathogenic/Likely pathogenic
- Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Frontotemporal dementia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)