T263M (p.Thr263Met) variant of GATA1 (Erythroid transcription factor)
T263M (p.Thr263Met) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
T263M (p.Thr263Met) variant details
- p.Thr263Met
- gnomAD rs1557020433
- Pathogenic
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.92
- MetaLR 0.99
- MetaSVM 0.93
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available