K29* (p.Lys29Ter) variant of PRKAA2 (P54646)
K29* (p.Lys29Ter) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
K29* (p.Lys29Ter) variant details
- p.Lys29Ter
- gnomAD 1-56645472-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 41.00
- Population evidence available
- Structural context available
- Literature evidence available