M1I (p.Met1Ile) variant of MITF (O75030)
M1I (p.Met1Ile) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- gnomAD 3-69866314-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 19.80
- Population evidence available
- Structural context available
- Literature evidence available