G21E (p.Gly21Glu) variant of MAPT (P10636)
G21E (p.Gly21Glu) in MAPT (P10636) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
G21E (p.Gly21Glu) variant details
- p.Gly21Glu
- ExAC rs781076528
- TOPMed rs781076528
- gnomAD rs781076528
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.07
- CADD 13.20
- PolyPhen-2 0.07
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available