Q10Q (p.Gln10Gln) variant of PURA (Q00577)
Q10Q (p.Gln10Gln) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q10Q (p.Gln10Gln) variant details
- p.Gln10Gln
- gnomAD 5-140114211-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 14.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-06)
- Structural context available
- Literature evidence available