E15* (p.Glu15Ter) variant of MITF (O75030)
E15* (p.Glu15Ter) in MITF (O75030) 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 structural context.
E15* (p.Glu15Ter) variant details
- p.Glu15Ter
- TOPMed rs1038868097
- gnomAD rs1038868097
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 38.00
- Population evidence available
- Structural context available