G16V (p.Gly16Val) variant of MAPT (P10636)
G16V (p.Gly16Val) 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; Progressive supranuclear ophthalmoplegia; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- rs755131800
- ClinGen CA8617502
- ClinVar RCV000662117
- ClinVar RCV000662118
- Uncertain significance
- Frontotemporal dementia; Progressive supranuclear ophthalmoplegia; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.06
- MetaLR 0.20
- MetaSVM -0.90
- CADD 10.20
- PolyPhen-2 0.86
- SIFT 0.26
- ClinVar: Uncertain significance (Frontotemporal dementia; Progressive supranuclear ophthalmoplegi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)