L23R (p.Leu23Arg) variant of GATA1 (Erythroid transcription factor)
L23R (p.Leu23Arg) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L23R (p.Leu23Arg) variant details
- p.Leu23Arg
- rs2519343657
- ClinGen CA412866812
- ClinVar RCV003792949
- Uncertain significance
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.56
- MetaLR 0.90
- MetaSVM 0.78
- CADD 22.90
- PolyPhen-2 0.55
- SIFT 0.02
- ClinVar: Uncertain significance (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)