E7* (p.Glu7Ter) variant of DIP2B (Q9P265)
E7* (p.Glu7Ter) in DIP2B (Q9P265) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- gnomAD 12-50505159-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.82
- CADD 37.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available