R70T (p.Arg70Thr) variant of GATA1 (Erythroid transcription factor)
R70T (p.Arg70Thr) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R70T (p.Arg70Thr) variant details
- p.Arg70Thr
- rs1029589980
- ClinGen CA329106065
- ClinVar RCV003781305
- gnomAD rs1029589980
- Uncertain significance
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.53
- MetaLR 0.92
- MetaSVM 1.10
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)