A49S (p.Ala49Ser) variant of GATA1 (Erythroid transcription factor)
A49S (p.Ala49Ser) 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.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- ExAC rs781856701
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available