G19C (p.Gly19Cys) variant of PRKAA2 (P54646)
G19C (p.Gly19Cys) 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.
G19C (p.Gly19Cys) variant details
- p.Gly19Cys
- gnomAD 1-56645442-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.45
- MetaLR 0.09
- MetaSVM -0.97
- CADD 26.10
- PolyPhen-2 0.43
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available