G706R (p.Gly706Arg) variant of MAPT (P10636)
G706R (p.Gly706Arg) in MAPT (P10636) is a missense change. The available record places it in the context of not provided; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G706R (p.Gly706Arg) variant details
- p.Gly706Arg
- rs63750512
- ClinGen CA225494
- ClinVar RCV000084553
- UniProt VAR 010352
- not provided
- not provided; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- AlphaMissense 0.99
- MetaLR 0.22
- MetaSVM -0.65
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.94
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in PIDB)
- UniProt: Pathogenic (in PIDB)
- Population evidence available
- Structural context available
- Cited in: Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. (PMID 10604746)
- Cited in: Pick's disease is associated with mutations in the tau gene. (PMID 11117542)