E26K (p.Glu26Lys) variant of MITF (O75030)
E26K (p.Glu26Lys) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- TOPMed rs1264298203
- gnomAD rs1264298203
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.26
- CADD 26.40
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available