E54D (p.Glu54Asp) variant of HNRNPU (Q00839)
E54D (p.Glu54Asp) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- TOPMed rs1483367975
- gnomAD rs1483367975
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- Structural context available