A28S (p.Ala28Ser) variant of CHD2 (O14647)
A28S (p.Ala28Ser) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD 15-92901355-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 17.70
- Population evidence available
- Structural context available
- Literature evidence available