Q5L (p.Gln5Leu) variant of PRKAA2 (P54646)
Q5L (p.Gln5Leu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q5L (p.Gln5Leu) variant details
- p.Gln5Leu
- gnomAD 1-56645401-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.14
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available