E15Q (p.Glu15Gln) variant of MITF (O75030)
E15Q (p.Glu15Gln) 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.
E15Q (p.Glu15Gln) variant details
- p.Glu15Gln
- TOPMed rs1038868097
- gnomAD rs1038868097
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.14
- CADD 23.70
- PolyPhen-2 0.29
- SIFT 0.10
- Population evidence available
- Structural context available