E27E (p.Glu27Glu) variant of CHD2 (O14647)
E27E (p.Glu27Glu) in CHD2 (O14647) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- rs986752119
- gnomAD 15-92905000-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 18.00
- Population evidence available
- Structural context available
- Literature evidence available