E26G (p.Glu26Gly) variant of MITF (O75030)
E26G (p.Glu26Gly) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- gnomAD 3-69739674-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.29
- CADD 26.10
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available