V11G (p.Val11Gly) variant of PRKAA2 (P54646)
V11G (p.Val11Gly) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V11G (p.Val11Gly) variant details
- p.Val11Gly
- gnomAD 1-56645419-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.57
- MetaLR 0.39
- MetaSVM -0.19
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available