G14* (p.Gly14Ter) variant of PRKAA2 (P54646)
G14* (p.Gly14Ter) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G14* (p.Gly14Ter) variant details
- p.Gly14Ter
- gnomAD 1-56645427-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available