F17L (p.Phe17Leu) variant of MITF (O75030)
F17L (p.Phe17Leu) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- rs1441101806
- gnomAD 3-69763889-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 4.54
- Population evidence available
- Structural context available
- Literature evidence available