E34* (p.Glu34Ter) variant of PRKAA2 (P54646)
E34* (p.Glu34Ter) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E34* (p.Glu34Ter) variant details
- p.Glu34Ter
- gnomAD 1-56674386-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available