P42T (p.Pro42Thr) variant of GATA2 (P23769)
P42T (p.Pro42Thr) in GATA2 (P23769) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
P42T (p.Pro42Thr) variant details
- p.Pro42Thr
- cosmic curated COSV10035
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available