P50R (p.Pro50Arg) variant of GATA1 (Erythroid transcription factor)
P50R (p.Pro50Arg) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P50R (p.Pro50Arg) variant details
- p.Pro50Arg
- rs201489369
- ClinGen CA412867074
- ClinVar RCV003806658
- 1000Genomes rs201489369
- Uncertain significance
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.20
- MetaLR 0.81
- MetaSVM 0.26
- CADD 15.70
- PolyPhen-2 0.04
- SIFT 0.22
- 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 1.9e-05)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)