I7F (p.Ile7Phe) variant of MITF (O75030)
I7F (p.Ile7Phe) 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.
I7F (p.Ile7Phe) variant details
- p.Ile7Phe
- gnomAD 3-69763884-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0802
- CADD 0.01
- Population evidence available
- Structural context available
- Literature evidence available