p.Glu30 Leu31del variant of DIP2B (Q9P265)
p.Glu30 Leu31del in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
p.Glu30 Leu31del variant details
- gnomAD 12-50505214-CGGAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available