E3Q (p.Glu3Gln) variant of PRKAA2 (P54646)
E3Q (p.Glu3Gln) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- gnomAD 1-56645394-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.14
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available