G33A (p.Gly33Ala) variant of PURA (Q00577)
G33A (p.Gly33Ala) in PURA (Q00577) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G33A (p.Gly33Ala) variant details
- p.Gly33Ala
- gnomAD 5-140114274-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available