V8E (p.Val8Glu) variant of MITF (O75030)
V8E (p.Val8Glu) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V8E (p.Val8Glu) variant details
- p.Val8Glu
- gnomAD 3-69763867-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available