E105Q (p.Glu105Gln) variant of HNRNPU (Q00839)
E105Q (p.Glu105Gln) 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 0.25 / 1. The record also includes structural context.
E105Q (p.Glu105Gln) variant details
- p.Glu105Gln
- rs2527895441
- ClinGen CA345497397
- ClinVar RCV003415098
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- ESM-1b 0.00
- AlphaMissense 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available