V30L (p.Val30Leu) variant of PRKAA2 (P54646)
V30L (p.Val30Leu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- gnomAD 1-56645475-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.56
- MetaLR 0.37
- MetaSVM -0.04
- CADD 24.80
- PolyPhen-2 0.26
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available