A59C (p.Ala59Cys) variant of GATA1 (Erythroid transcription factor)
A59C (p.Ala59Cys) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
A59C (p.Ala59Cys) variant details
- p.Ala59Cys
- rs2519343818
- ClinGen CA2695200208
- ClinVar RCV003448721
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available