G33D (p.Gly33Asp) variant of SHANK3 (Q9BYB0)
G33D (p.Gly33Asp) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G33D (p.Gly33Asp) variant details
- p.Gly33Asp
- gnomAD 22-50674649-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.07
- CADD 17.30
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available