E73K (p.Glu73Lys) variant of MAPT (P10636)
E73K (p.Glu73Lys) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E73K (p.Glu73Lys) variant details
- p.Glu73Lys
- gnomAD 17-45971942-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.04
- MetaLR 0.15
- MetaSVM -0.95
- CADD 24.00
- PolyPhen-2 0.88
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available