E28* (p.Glu28Ter) variant of TGM1 (P22735)
E28* (p.Glu28Ter) in TGM1 (P22735) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- ExAC rs760012789
- TOPMed rs760012789
- gnomAD rs760012789
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 36.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available