S39A (p.Ser39Ala) variant of CHD2 (O14647)
S39A (p.Ser39Ala) 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.
S39A (p.Ser39Ala) variant details
- p.Ser39Ala
- rs2052526585
- gnomAD 15-92901352-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 20.40
- Population evidence available
- Structural context available
- Literature evidence available