E20E (p.Glu20Glu) variant of MITF (O75030)
E20E (p.Glu20Glu) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E20E (p.Glu20Glu) variant details
- p.Glu20Glu
- gnomAD 3-69739657-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available