G19E (p.Gly19Glu) variant of MAPT (P10636)
G19E (p.Gly19Glu) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- TOPMed rs1568240688
- gnomAD rs1568240688
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.02
- MetaLR 0.08
- MetaSVM -1.06
- CADD 9.85
- PolyPhen-2 0.92
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available