V17E (p.Val17Glu) variant of PRKAA2 (P54646)
V17E (p.Val17Glu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V17E (p.Val17Glu) variant details
- p.Val17Glu
- gnomAD 1-56645437-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.17
- MetaLR 0.12
- MetaSVM -0.98
- CADD 23.00
- PolyPhen-2 0.33
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available