E34Q (p.Glu34Gln) variant of MSI1 (O43347)
E34Q (p.Glu34Gln) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E34Q (p.Glu34Gln) variant details
- p.Glu34Gln
- TOPMed rs1876204913
- gnomAD rs1876204913
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.53
- CADD 35.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available