G25C (p.Gly25Cys) variant of PRKAA2 (P54646)
G25C (p.Gly25Cys) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G25C (p.Gly25Cys) variant details
- p.Gly25Cys
- gnomAD 1-56645460-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.96
- MetaLR 0.87
- MetaSVM 1.05
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available