R69P (p.Arg69Pro) variant of GATA2 (P23769)
R69P (p.Arg69Pro) in GATA2 (P23769) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
R69P (p.Arg69Pro) variant details
- p.Arg69Pro
- TOPMed rs1457679310
- Uncertain significance
- Missense
- MetaLR 0.92
- MetaSVM 0.99
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available