A39D (p.Ala39Asp) variant of SHANK3 (Q9BYB0)
A39D (p.Ala39Asp) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A39D (p.Ala39Asp) variant details
- p.Ala39Asp
- gnomAD 22-50675088-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.12
- CADD 26.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available