V17L (p.Val17Leu) variant of PRKAA2 (P54646)
V17L (p.Val17Leu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- gnomAD 1-56645436-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.03
- MetaLR 0.10
- MetaSVM -1.07
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available