A68R (p.Ala68Arg) variant of GATA2 (P23769)
A68R (p.Ala68Arg) in GATA2 (P23769) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
A68R (p.Ala68Arg) variant details
- p.Ala68Arg
- rs2472934198
- ClinGen CA2580068688
- ClinVar RCV002838538
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available