G19V (p.Gly19Val) variant of PRKAA2 (P54646)
G19V (p.Gly19Val) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- gnomAD 1-56645443-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.45
- MetaLR 0.10
- MetaSVM -0.97
- CADD 28.90
- PolyPhen-2 0.96
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available