E15G (p.Glu15Gly) variant of MITF (O75030)
E15G (p.Glu15Gly) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E15G (p.Glu15Gly) variant details
- p.Glu15Gly
- ExAC rs758114521
- gnomAD rs758114521
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.15
- CADD 24.30
- PolyPhen-2 0.12
- SIFT 0.37
- Population evidence available
- Structural context available