G9W (p.Gly9Trp) variant of PRKAA2 (P54646)
G9W (p.Gly9Trp) in PRKAA2 (P54646) is a missense 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.
G9W (p.Gly9Trp) variant details
- p.Gly9Trp
- gnomAD 1-56645412-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.55
- MetaLR 0.49
- MetaSVM 0.06
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available