E36Q (p.Glu36Gln) variant of HNRNPU (Q00839)
E36Q (p.Glu36Gln) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes experimental measurements and structural context.
E36Q (p.Glu36Gln) variant details
- p.Glu36Gln
- TOPMed rs1680939261
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- ESM-1b 0.00
- AlphaMissense 0.67
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.17