E19Q (p.Glu19Gln) variant of MLC1 (Membrane protein MLC1)
E19Q (p.Glu19Gln) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- TOPMed rs2062242153
- gnomAD rs2062242153
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- ESM-1b 0.00
- AlphaMissense 0.51
- Population evidence available
- Structural context available