E7del (p.Glu7del) variant of MAPT (P10636)
E7del (p.Glu7del) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E7del (p.Glu7del) variant details
- gnomAD 17-45962353-CAGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 15.60
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available