D32Y (p.Asp32Tyr) variant of CHD2 (O14647)
D32Y (p.Asp32Tyr) 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.
D32Y (p.Asp32Tyr) variant details
- p.Asp32Tyr
- gnomAD 15-92904992-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 15.20
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available