E19K (p.Glu19Lys) variant of MITF (O75030)
E19K (p.Glu19Lys) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- TOPMed rs1703450453
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.20
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.40
- Population evidence available
- Structural context available