V8I (p.Val8Ile) variant of MITF (O75030)
V8I (p.Val8Ile) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V8I (p.Val8Ile) variant details
- p.Val8Ile
- gnomAD 3-69763869-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 8.46
- Population evidence available
- Structural context available
- Literature evidence available