I7T (p.Ile7Thr) variant of MITF (O75030)
I7T (p.Ile7Thr) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I7T (p.Ile7Thr) variant details
- p.Ile7Thr
- rs773317681
- gnomAD 3-69794476-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 2.72
- Population evidence available
- Structural context available
- Literature evidence available