R31C (p.Arg31Cys) variant of STAT5B (P51692)
R31C (p.Arg31Cys) in STAT5B (P51692) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R31C (p.Arg31Cys) variant details
- p.Arg31Cys
- rs2508803545
- ClinGen CA2697559901
- ClinVar RCV003506657
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available