V30A (p.Val30Ala) variant of PRKAA2 (P54646)
V30A (p.Val30Ala) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V30A (p.Val30Ala) variant details
- p.Val30Ala
- gnomAD 1-56645476-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.57
- MetaLR 0.42
- MetaSVM 0.01
- CADD 29.30
- PolyPhen-2 0.85
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available