E36D (p.Glu36Asp) variant of MAPT (P10636)
E36D (p.Glu36Asp) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
E36D (p.Glu36Asp) variant details
- p.Glu36Asp
- cosmic curated COSV52237
- ExAC rs773762393
- gnomAD rs773762393
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.04
- CADD 5.70
- PolyPhen-2 0.73
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available