E27* (p.Glu27Ter) variant of RUNX1 (Q01196)
E27* (p.Glu27Ter) in RUNX1 (Q01196) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- NCI-TCGA Cosmic COSV5586
- NCI-TCGA Cosmic COSV5589
- Ensembl rs2146413491
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available