T17M (p.Thr17Met) variant of MAPT (P10636)
T17M (p.Thr17Met) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Frontotemporal dementia; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T17M (p.Thr17Met) variant details
- p.Thr17Met
- rs144611688
- ClinGen CA8617504
- ClinVar RCV000874605
- ClinVar RCV002064770
- Benign/Likely benign
- Frontotemporal dementia; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -1.05
- CADD 19.50
- PolyPhen-2 0.90
- SIFT 0.12
- ClinVar: Benign/Likely benign (Frontotemporal dementia; not specified; not provided)
- EBI: Benign (in dbSNP:rs144611688)
- UniProt: Benign (in dbSNP:rs144611688)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: A thorough assessment of benign genetic variability in GRN and MAPT. (PMID 20020531)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)