Y48Y (p.Tyr48Tyr) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Y48Y (p.Tyr48Tyr) in DEPDC5 (GATOR1 complex protein DEPDC5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Y48Y (p.Tyr48Tyr) variant details
- p.Tyr48Tyr
- gnomAD 22-31758631-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 15.70
- Population evidence available
- Structural context available
- Literature evidence available