Q10* (p.Gln10Ter) variant of PURA (Q00577)
Q10* (p.Gln10Ter) in PURA (Q00577) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Q10* (p.Gln10Ter) variant details
- p.Gln10Ter
- gnomAD 5-140114209-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-06)
- Structural context available
- Literature evidence available