E7* (p.Glu7Ter) variant of MAPT (P10636)
E7* (p.Glu7Ter) in MAPT (P10636) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- ExAC rs774795793
- gnomAD rs774795793
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.847
- CADD 36.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available