G28D (p.Gly28Asp) variant of PRKAA2 (P54646)
G28D (p.Gly28Asp) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- gnomAD 1-56645470-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.69
- MetaLR 0.51
- MetaSVM 0.44
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available