E45V (p.Glu45Val) variant of MAPT (P10636)
E45V (p.Glu45Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E45V (p.Glu45Val) variant details
- p.Glu45Val
- rs764226855
- ClinGen CA8617538
- ClinVar RCV003515490
- ExAC rs764226855
- Uncertain significance
- Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.15
- MetaLR 0.12
- MetaSVM -0.99
- CADD 25.50
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Frontotemporal dementia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)