E34G (p.Glu34Gly) variant of PRKAA2 (P54646)
E34G (p.Glu34Gly) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- TOPMed rs1296094303
- gnomAD rs1296094303
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.32
- MetaLR 0.09
- MetaSVM -1.05
- CADD 23.50
- PolyPhen-2 0.37
- SIFT 0.14
- Most common in the South Asian population (allele frequency 4e-05)
- Structural context available