G33W (p.Gly33Trp) variant of SHANK3 (Q9BYB0)
G33W (p.Gly33Trp) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G33W (p.Gly33Trp) variant details
- p.Gly33Trp
- gnomAD 22-50674653-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 25.90
- Population evidence available
- Structural context available
- Literature evidence available