E3G (p.Glu3Gly) variant of PRKAA2 (P54646)
E3G (p.Glu3Gly) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E3G (p.Glu3Gly) variant details
- p.Glu3Gly
- gnomAD 1-56645395-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.24
- CADD 25.60
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available