V24F (p.Val24Phe) variant of PRKAA2 (P54646)
V24F (p.Val24Phe) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V24F (p.Val24Phe) variant details
- p.Val24Phe
- gnomAD 1-56645457-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.45
- MetaLR 0.35
- MetaSVM -0.29
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available