K48* (p.Lys48Ter) variant of SHANK3 (Q9BYB0)
K48* (p.Lys48Ter) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
K48* (p.Lys48Ter) variant details
- p.Lys48Ter
- gnomAD 22-50675048-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 43.00
- Population evidence available
- Structural context available
- Literature evidence available