A28E (p.Ala28Glu) variant of CHD2 (O14647)
A28E (p.Ala28Glu) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A28E (p.Ala28Glu) variant details
- p.Ala28Glu
- gnomAD 15-92904987-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 14.30
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available