G25V (p.Gly25Val) variant of PRKAA2 (P54646)
G25V (p.Gly25Val) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- gnomAD 1-56645461-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.92
- MetaLR 0.86
- MetaSVM 0.82
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available