E33E (p.Glu33Glu) variant of DIP2B (Q9P265)
E33E (p.Glu33Glu) in DIP2B (Q9P265) 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.
E33E (p.Glu33Glu) variant details
- p.Glu33Glu
- gnomAD 12-50505239-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 18.20
- Population evidence available
- Structural context available
- Literature evidence available