E229G (p.Glu229Gly) variant of ETS1 (Protein C-ets-1)
E229G (p.Glu229Gly) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E229G (p.Glu229Gly) variant details
- p.Glu229Gly
- gnomAD 11-128485005-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.34
- MetaLR 0.23
- MetaSVM -0.74
- CADD 26.70
- PolyPhen-2 0.84
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available