E52E (p.Glu52Glu) variant of PRKAR1A (P10644)
E52E (p.Glu52Glu) in PRKAR1A (P10644) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E52E (p.Glu52Glu) variant details
- p.Glu52Glu
- rs141432364
- gnomAD 17-68515555-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.47
- Most common in the Ashkenazi Jewish population (allele frequency 0.0049)
- Structural context available
- Literature evidence available