L27* (p.Leu27Ter) variant of MITF (O75030)
L27* (p.Leu27Ter) in MITF (O75030) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L27* (p.Leu27Ter) variant details
- p.Leu27Ter
- gnomAD 3-69763918-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.07
- Population evidence available
- Structural context available
- Literature evidence available