Y3* (p.Tyr3Ter) variant of SRSF2 (Q01130)
Y3* (p.Tyr3Ter) in SRSF2 (Q01130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and published literature.
Y3* (p.Tyr3Ter) variant details
- p.Tyr3Ter
- gnomAD 17-76737152-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 40.00
- Population evidence available
- Literature evidence available