A28D (p.Ala28Asp) variant of CHD2 (O14647)
A28D (p.Ala28Asp) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD 15-92901356-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 18.80
- Population evidence available
- Structural context available
- Literature evidence available