G6* (p.Gly6Ter) variant of MITF (O75030)
G6* (p.Gly6Ter) in MITF (O75030) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G6* (p.Gly6Ter) variant details
- p.Gly6Ter
- gnomAD 3-69763845-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 12.60
- Population evidence available
- Structural context available
- Literature evidence available