E229D (p.Glu229Asp) variant of ETS1 (Protein C-ets-1)
E229D (p.Glu229Asp) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E229D (p.Glu229Asp) variant details
- p.Glu229Asp
- gnomAD 11-128485022-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.09
- MetaLR 0.08
- MetaSVM -1.07
- CADD 20.60
- PolyPhen-2 0.08
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available