E9E (p.Glu9Glu) variant of PURA (Q00577)
E9E (p.Glu9Glu) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E9E (p.Glu9Glu) variant details
- p.Glu9Glu
- rs1481319515
- gnomAD 5-140114208-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Literature evidence available