E4E (p.Glu4Glu) variant of MITF (O75030)
E4E (p.Glu4Glu) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E4E (p.Glu4Glu) variant details
- p.Glu4Glu
- rs546125344
- gnomAD 3-69763856-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 12.00
- Population evidence available
- Structural context available
- Literature evidence available