G14V (p.Gly14Val) variant of PRKAA2 (P54646)
G14V (p.Gly14Val) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- gnomAD 1-56645428-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.49
- MetaLR 0.16
- MetaSVM -0.79
- CADD 30.00
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available