D48N (p.Asp48Asn) variant of RUNX1 (Q01196)
D48N (p.Asp48Asn) in RUNX1 (Q01196) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
D48N (p.Asp48Asn) variant details
- p.Asp48Asn
- Ensembl rs2058001847
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available