E9Q (p.Glu9Gln) variant of MAPT (P10636)
E9Q (p.Glu9Gln) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- gnomAD 17-45962362-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -0.99
- CADD 9.77
- PolyPhen-2 0.94
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available