E11* (p.Glu11Ter) variant of SRSF2 (Q01130)
E11* (p.Glu11Ter) in SRSF2 (Q01130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
E11* (p.Glu11Ter) variant details
- p.Glu11Ter
- gnomAD 17-76737130-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 39.00
- Population evidence available
- Literature evidence available