E26* (p.Glu26Ter) variant of MITF (O75030)
E26* (p.Glu26Ter) 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.
E26* (p.Glu26Ter) variant details
- p.Glu26Ter
- TOPMed rs1264298203
- gnomAD rs1264298203
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 39.00
- Population evidence available
- Structural context available