G19A (p.Gly19Ala) variant of PRKAA2 (P54646)
G19A (p.Gly19Ala) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- gnomAD 1-56645440-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available