V17A (p.Val17Ala) variant of PRKAA2 (P54646)
V17A (p.Val17Ala) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- gnomAD 1-56645437-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.08
- MetaLR 0.15
- MetaSVM -0.98
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available