R49L (p.Arg49Leu) variant of RUNX1 (Q01196)
R49L (p.Arg49Leu) in RUNX1 (Q01196) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R49L (p.Arg49Leu) variant details
- p.Arg49Leu
- ExAC rs780816315
- gnomAD rs780816315
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available