K22M (p.Lys22Met) variant of MITF (O75030)
K22M (p.Lys22Met) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K22M (p.Lys22Met) variant details
- p.Lys22Met
- gnomAD 3-69763903-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 7.58
- Population evidence available
- Structural context available
- Literature evidence available