I7I (p.Ile7Ile) variant of MITF (O75030)
I7I (p.Ile7Ile) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I7I (p.Ile7Ile) variant details
- p.Ile7Ile
- rs2106732481
- gnomAD 3-69739618-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 12.10
- Population evidence available
- Structural context available
- Literature evidence available