V11A (p.Val11Ala) variant of PRKAA2 (P54646)
V11A (p.Val11Ala) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- gnomAD 1-56645419-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.35
- MetaLR 0.29
- MetaSVM -0.44
- CADD 25.40
- PolyPhen-2 0.74
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available