E4D (p.Glu4Asp) variant of MITF (O75030)
E4D (p.Glu4Asp) 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.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- gnomAD 3-69866296-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available