F17I (p.Phe17Ile) variant of MITF (O75030)
F17I (p.Phe17Ile) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
F17I (p.Phe17Ile) variant details
- p.Phe17Ile
- gnomAD 3-69763887-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 6.74
- Population evidence available
- Structural context available
- Literature evidence available