Q228E (p.Gln228Glu) variant of ETS1 (Protein C-ets-1)
Q228E (p.Gln228Glu) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q228E (p.Gln228Glu) variant details
- p.Gln228Glu
- rs1398669637
- gnomAD 11-128484997-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.26
- MetaLR 0.22
- MetaSVM -0.90
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available