V11M (p.Val11Met) variant of PRKAA2 (P54646)
V11M (p.Val11Met) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V11M (p.Val11Met) variant details
- p.Val11Met
- gnomAD 1-56645418-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.33
- MetaLR 0.22
- MetaSVM -0.58
- CADD 23.50
- PolyPhen-2 0.26
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available