H15L (p.His15Leu) variant of PRKAA2 (P54646)
H15L (p.His15Leu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H15L (p.His15Leu) variant details
- p.His15Leu
- gnomAD 1-56645431-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.25
- MetaLR 0.04
- MetaSVM -1.12
- CADD 24.20
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available