E3* (p.Glu3Ter) variant of PRKAA2 (P54646)
E3* (p.Glu3Ter) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- gnomAD 1-56645394-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available