E12* (p.Glu12Ter) variant of ARID2 (Q68CP9)
E12* (p.Glu12Ter) in ARID2 (Q68CP9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E12* (p.Glu12Ter) variant details
- p.Glu12Ter
- gnomAD 12-45729870-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available