D41D (p.Asp41Asp) variant of SHANK3 (Q9BYB0)
D41D (p.Asp41Asp) in SHANK3 (Q9BYB0) is a synonymous 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.
D41D (p.Asp41Asp) variant details
- p.Asp41Asp
- gnomAD 22-50674647-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 14.60
- Population evidence available
- Structural context available
- Literature evidence available