D41H (p.Asp41His) variant of SHANK3 (Q9BYB0)
D41H (p.Asp41His) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D41H (p.Asp41His) variant details
- p.Asp41His
- gnomAD 22-50674645-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.10
- CADD 25.80
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available