T54S (p.Thr54Ser) variant of GATA1 (Erythroid transcription factor)
T54S (p.Thr54Ser) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T54S (p.Thr54Ser) variant details
- p.Thr54Ser
- rs2062674135
- ClinGen CA412867113
- ClinVar RCV002917831
- ClinVar RCV004973696
- Uncertain significance
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.17
- MetaLR 0.70
- MetaSVM -0.10
- CADD 8.33
- PolyPhen-2 0.01
- SIFT 0.84
- ClinVar: Uncertain significance (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)