E15K (p.Glu15Lys) variant of MITF (O75030)
E15K (p.Glu15Lys) 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.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- gnomAD 3-69739640-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.20
- CADD 24.20
- PolyPhen-2 0.12
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available