E20K (p.Glu20Lys) variant of MITF (O75030)
E20K (p.Glu20Lys) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- ExAC rs770451570
- TOPMed rs770451570
- gnomAD rs770451570
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.32
- CADD 26.20
- PolyPhen-2 0.05
- SIFT 0.05
- Population evidence available
- Structural context available