E15E (p.Glu15Glu) variant of MITF (O75030)
E15E (p.Glu15Glu) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E15E (p.Glu15Glu) variant details
- p.Glu15Glu
- rs777833130
- gnomAD 3-69739642-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 14.00
- Population evidence available
- Structural context available
- Literature evidence available