E4K (p.Glu4Lys) variant of MITF (O75030)
E4K (p.Glu4Lys) 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 and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- TOPMed rs1703448556
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.22
- CADD 26.60
- PolyPhen-2 0.08
- SIFT 0.00
- Population evidence available
- Structural context available