G25A (p.Gly25Ala) variant of PRKAA2 (P54646)
G25A (p.Gly25Ala) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G25A (p.Gly25Ala) variant details
- p.Gly25Ala
- gnomAD 1-56645458-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 27.20
- Population evidence available
- Structural context available
- Literature evidence available