V8F (p.Val8Phe) variant of MITF (O75030)
V8F (p.Val8Phe) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V8F (p.Val8Phe) variant details
- p.Val8Phe
- rs2062248402
- gnomAD 3-69763869-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 8.01
- Population evidence available
- Structural context available
- Literature evidence available