E4G (p.Glu4Gly) variant of MITF (O75030)
E4G (p.Glu4Gly) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E4G (p.Glu4Gly) variant details
- p.Glu4Gly
- gnomAD 3-69763855-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available