E90D (p.Glu90Asp) variant of HNRNPU (Q00839)
E90D (p.Glu90Asp) in HNRNPU (Q00839) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E90D (p.Glu90Asp) variant details
- p.Glu90Asp
- ExAC rs776529551
- TOPMed rs776529551
- gnomAD rs776529551
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.03
- ESM-1b 0.88
- AlphaMissense 0.09
- CADD 7.55
- PolyPhen-2 0.01
- SIFT 0.64
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available