Q76E (p.Gln76Glu) variant of HNRNPU (Q00839)
Q76E (p.Gln76Glu) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
Q76E (p.Gln76Glu) variant details
- p.Gln76Glu
- rs1221183673
- ClinGen CA345497603
- ClinVar RCV002291862
- gnomAD rs1221183673
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.06
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available