E19D (p.Glu19Asp) variant of MITF (O75030)
E19D (p.Glu19Asp) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- gnomAD 3-69739654-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.10
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available