G22G (p.Gly22Gly) variant of PURA (Q00577)
G22G (p.Gly22Gly) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G22G (p.Gly22Gly) variant details
- p.Gly22Gly
- gnomAD 5-140114247-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 15.00
- Most common in the East Asian population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available