L27M (p.Leu27Met) variant of MITF (O75030)
L27M (p.Leu27Met) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- gnomAD 3-69763923-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 2.49
- Population evidence available
- Structural context available
- Literature evidence available