E20Q (p.Glu20Gln) variant of MITF (O75030)
E20Q (p.Glu20Gln) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E20Q (p.Glu20Gln) variant details
- p.Glu20Gln
- gnomAD 3-69763899-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 3.01
- Population evidence available
- Structural context available
- Literature evidence available