E131D (p.Glu131Asp) variant of WWTR1 (Q9GZV5)
E131D (p.Glu131Asp) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E131D (p.Glu131Asp) variant details
- p.Glu131Asp
- gnomAD rs1282745884
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.82
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available