S25L (p.Ser25Leu) variant of CHD2 (O14647)
S25L (p.Ser25Leu) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S25L (p.Ser25Leu) variant details
- p.Ser25Leu
- gnomAD 15-92901311-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 18.10
- Population evidence available
- Structural context available
- Literature evidence available