E12D (p.Glu12Asp) variant of MITF (O75030)
E12D (p.Glu12Asp) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- cosmic curated COSV61476
- ExAC rs750693668
- gnomAD rs750693668
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available