E16D (p.Glu16Asp) variant of MITF (O75030)
E16D (p.Glu16Asp) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- gnomAD 3-69739645-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.16
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available