E12G (p.Glu12Gly) variant of MITF (O75030)
E12G (p.Glu12Gly) 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, published literature, and structural context.
E12G (p.Glu12Gly) variant details
- p.Glu12Gly
- gnomAD 3-69739632-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.21
- CADD 26.00
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available