E26G (p.Glu26Gly) variant of CHD2 (O14647)
E26G (p.Glu26Gly) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- gnomAD 15-92901305-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 18.50
- Population evidence available
- Structural context available
- Literature evidence available