D41T (p.Asp41Thr) variant of SHANK3 (Q9BYB0)
D41T (p.Asp41Thr) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D41T (p.Asp41Thr) variant details
- p.Asp41Thr
- gnomAD 22-50674688-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available