E3E (p.Glu3Glu) variant of PRKAA2 (P54646)
E3E (p.Glu3Glu) in PRKAA2 (P54646) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E3E (p.Glu3Glu) variant details
- p.Glu3Glu
- gnomAD 1-56645396-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 14.60
- Most common in the Latino/Admixed American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available