Q5* (p.Gln5Ter) variant of PRKAA2 (P54646)
Q5* (p.Gln5Ter) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- gnomAD 1-56645400-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available