G7R (p.Gly7Arg) variant of GATA1 (Erythroid transcription factor)
G7R (p.Gly7Arg) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- rs782214998
- ClinGen CA412866695
- ClinVar RCV002600672
- cosmic curated COSV10970
- Uncertain significance
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.41
- MetaLR 0.89
- MetaSVM 0.56
- CADD 23.00
- PolyPhen-2 0.83
- 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 1KG:ESN population (allele frequency 0.0067)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)