S39L (p.Ser39Leu) variant of CHD2 (O14647)
S39L (p.Ser39Leu) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S39L (p.Ser39Leu) variant details
- p.Ser39Leu
- gnomAD 15-92901353-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 19.20
- Population evidence available
- Structural context available
- Literature evidence available