E229A (p.Glu229Ala) variant of ETS1 (Protein C-ets-1)
E229A (p.Glu229Ala) 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.
E229A (p.Glu229Ala) variant details
- p.Glu229Ala
- rs1862589784
- gnomAD 11-128485032-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -1.07
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available