p.Gly36 Gly49del variant of PURA (Q00577)
p.Gly36 Gly49del in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly36 Gly49del variant details
- gnomAD 5-140114277-GGGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 19.90
- Population evidence available
- Structural context available
- Literature evidence available