S29F (p.Ser29Phe) variant of CHD2 (O14647)
S29F (p.Ser29Phe) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S29F (p.Ser29Phe) variant details
- p.Ser29Phe
- rs555459805
- gnomAD 15-92902194-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 16.30
- Population evidence available
- Structural context available
- Literature evidence available