E92* (p.Glu92Ter) variant of TERF2 (Q15554)
E92* (p.Glu92Ter) in TERF2 (Q15554) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E92* (p.Glu92Ter) variant details
- p.Glu92Ter
- gnomAD rs1423732116
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.836
- CADD 36.00
- Population evidence available
- Structural context available