M1T (p.Met1Thr) variant of GATA1 (Erythroid transcription factor)
M1T (p.Met1Thr) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs587776451
- ClinGen CA345934
- ClinVar RCV000144252
- ClinVar RCV000754842
- Pathogenic
- Missense
- MetaLR 0.83
- MetaSVM 0.58
- PolyPhen-2 0.06
- SIFT 0.00
- MutPred 0.61
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. (PMID 24453067)
- Cited in: Altered translation of GATA1 in Diamond-Blackfan anemia. (PMID 24952648)