E45D (p.Glu45Asp) variant of MAPT (P10636)
E45D (p.Glu45Asp) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- gnomAD rs1317176100
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.22
- MetaLR 0.12
- MetaSVM -0.86
- CADD 1.23
- PolyPhen-2 0.02
- SIFT 0.15
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available