E19* (p.Glu19Ter) variant of DIP2B (Q9P265)
E19* (p.Glu19Ter) in DIP2B (Q9P265) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E19* (p.Glu19Ter) variant details
- p.Glu19Ter
- gnomAD 12-50505195-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available