V11L (p.Val11Leu) variant of PRKAA2 (P54646)
V11L (p.Val11Leu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V11L (p.Val11Leu) variant details
- p.Val11Leu
- gnomAD 1-56645418-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.19
- MetaLR 0.17
- MetaSVM -0.92
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available