S5* (p.Ser5Ter) variant of MITF (O75030)
S5* (p.Ser5Ter) 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.
S5* (p.Ser5Ter) variant details
- p.Ser5Ter
- TOPMed rs1413689457
- gnomAD rs1413689457
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.857
- CADD 37.00
- Population evidence available
- Structural context available