D41Y (p.Asp41Tyr) variant of SHANK3 (Q9BYB0)
D41Y (p.Asp41Tyr) 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.
D41Y (p.Asp41Tyr) variant details
- p.Asp41Tyr
- gnomAD 22-50674645-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.10
- CADD 26.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available