S50R (p.Ser50Arg) variant of RUNX1 (Q01196)
S50R (p.Ser50Arg) in RUNX1 (Q01196) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
S50R (p.Ser50Arg) variant details
- p.Ser50Arg
- TOPMed rs1329847140
- gnomAD rs1329847140
- cosmic curated COSV55888
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available