E19A (p.Glu19Ala) variant of MITF (O75030)
E19A (p.Glu19Ala) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E19A (p.Glu19Ala) variant details
- p.Glu19Ala
- 1000Genomes rs191483142
- TOPMed rs191483142
- gnomAD rs191483142
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.28
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available