V30E (p.Val30Glu) variant of PRKAA2 (P54646)
V30E (p.Val30Glu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V30E (p.Val30Glu) variant details
- p.Val30Glu
- gnomAD 1-56645476-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.53
- MetaLR 0.42
- MetaSVM -0.08
- CADD 25.50
- PolyPhen-2 0.24
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available