E12* (p.Glu12Ter) variant of MITF (O75030)
E12* (p.Glu12Ter) in MITF (O75030) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E12* (p.Glu12Ter) variant details
- p.Glu12Ter
- gnomAD 3-69739631-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available