E16Q (p.Glu16Gln) variant of MITF (O75030)
E16Q (p.Glu16Gln) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- gnomAD rs1292958607
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.48
- Population evidence available
- Structural context available