E38E (p.Glu38Glu) variant of CHD2 (O14647)
E38E (p.Glu38Glu) in CHD2 (O14647) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E38E (p.Glu38Glu) variant details
- p.Glu38Glu
- gnomAD 15-92901348-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 19.30
- Population evidence available
- Structural context available
- Literature evidence available