E84K (p.Glu84Lys) variant of HNRNPU (Q00839)
E84K (p.Glu84Lys) 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 0.36 / 1. The record also includes population frequency data and structural context.
E84K (p.Glu84Lys) variant details
- p.Glu84Lys
- ExAC rs769557448
- gnomAD rs769557448
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available