E45* (p.Glu45Ter) variant of MAPT (P10636)
E45* (p.Glu45Ter) in MAPT (P10636) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
E45* (p.Glu45Ter) variant details
- p.Glu45Ter
- cosmic curated COSV52244
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.889
- CADD 50.00
- SIFT 0.14
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available