E128* (p.Glu128Ter) variant of SPTBN2 (O15020)
E128* (p.Glu128Ter) in SPTBN2 (O15020) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data.
E128* (p.Glu128Ter) variant details
- p.Glu128Ter
- ExAC rs777128229
- TOPMed rs777128229
- gnomAD rs777128229
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 36.00
- Population evidence available