E3D (p.Glu3Asp) variant of PRKAA2 (P54646)
E3D (p.Glu3Asp) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- gnomAD 1-56645396-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.13
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available