p.Ser30 Gly31del variant of PURA (Q00577)
p.Ser30 Gly31del in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser30 Gly31del variant details
- gnomAD 5-140114259-GGGCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available