E27G (p.Glu27Gly) variant of CHD2 (O14647)
E27G (p.Glu27Gly) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- gnomAD 15-92904999-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 19.40
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available