A2D (p.Ala2Asp) variant of PRKAA2 (P54646)
A2D (p.Ala2Asp) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 1-56645392-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.36
- CADD 23.80
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available