Q5K (p.Gln5Lys) variant of PRKAA2 (P54646)
Q5K (p.Gln5Lys) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q5K (p.Gln5Lys) variant details
- p.Gln5Lys
- gnomAD 1-56645400-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.11
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available