K28* (p.Lys28Ter) variant of MITF (O75030)
K28* (p.Lys28Ter) in MITF (O75030) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
K28* (p.Lys28Ter) variant details
- p.Lys28Ter
- gnomAD rs1483686343
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 38.00
- Population evidence available
- Structural context available