E20G (p.Glu20Gly) variant of MITF (O75030)
E20G (p.Glu20Gly) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- gnomAD 3-69763900-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0785
- CADD 0.06
- Population evidence available
- Structural context available
- Literature evidence available