D6H (p.Asp6His) variant of RUNX1 (Q01196)
D6H (p.Asp6His) in RUNX1 (Q01196) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
D6H (p.Asp6His) variant details
- p.Asp6His
- Ensembl rs2058006300
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available