E9K (p.Glu9Lys) variant of MAPT (P10636)
E9K (p.Glu9Lys) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- rs762595428
- ClinGen CA8617496
- ClinVar RCV001815827
- ClinVar RCV001869641
- Uncertain significance
- not provided; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.03
- CADD 12.90
- PolyPhen-2 0.77
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Frontotemporal dementia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)