Q2* (p.Gln2Ter) variant of SHANK3 (Q9BYB0)
Q2* (p.Gln2Ter) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Q2* (p.Gln2Ter) variant details
- p.Gln2Ter
- gnomAD 22-50674696-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available