E12K (p.Glu12Lys) variant of MITF (O75030)
E12K (p.Glu12Lys) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- gnomAD 3-69739631-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.17
- CADD 26.20
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available