G19S (p.Gly19Ser) variant of PRKAA2 (P54646)
G19S (p.Gly19Ser) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- gnomAD 1-56645442-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.41
- MetaLR 0.12
- MetaSVM -0.92
- CADD 29.70
- PolyPhen-2 0.90
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available