M1L (p.Met1Leu) variant of MITF (O75030)
M1L (p.Met1Leu) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1182582559
- gnomAD 3-69794508-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0831
- CADD 0.42
- Population evidence available
- Structural context available
- Literature evidence available