E4Q (p.Glu4Gln) variant of MITF (O75030)
E4Q (p.Glu4Gln) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E4Q (p.Glu4Gln) variant details
- p.Glu4Gln
- gnomAD 3-69763854-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 14.60
- Population evidence available
- Structural context available
- Literature evidence available