D48E (p.Asp48Glu) variant of RUNX1 (Q01196)
D48E (p.Asp48Glu) in RUNX1 (Q01196) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
D48E (p.Asp48Glu) variant details
- p.Asp48Glu
- ExAC rs747801893
- gnomAD rs747801893
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available