P50Q (p.Pro50Gln) variant of GATA1 (Erythroid transcription factor)
P50Q (p.Pro50Gln) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P50Q (p.Pro50Gln) variant details
- p.Pro50Gln
- cosmic curated COSV64962
- 1000Genomes rs201489369
- ExAC rs201489369
- TOPMed rs201489369
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available