E15D (p.Glu15Asp) variant of MITF (O75030)
E15D (p.Glu15Asp) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E15D (p.Glu15Asp) variant details
- p.Glu15Asp
- gnomAD 3-69739642-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.06
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available