M1I (p.Met1Ile) variant of GATA1 (Erythroid transcription factor)
M1I (p.Met1Ile) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GATA1-related disorder. The record also includes variant effect predictions, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2147305526
- ClinGen CA412866641
- ClinVar RCV001380283
- Pathogenic
- GATA1-related disorder
- Missense
- MetaLR 0.83
- MetaSVM 0.67
- PolyPhen-2 0.29
- SIFT 0.00
- MutPred 0.61
- ClinVar: Pathogenic (GATA1-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)