P73R (p.Pro73Arg) variant of GATA1 (Erythroid transcription factor)
P73R (p.Pro73Arg) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar 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 0.66 / 1. The record also includes population frequency data and structural context.
P73R (p.Pro73Arg) variant details
- p.Pro73Arg
- Ensembl rs781808940
- Uncertain significance
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.65
- AlphaMissense 0.71
- MetaLR 0.95
- MetaSVM 1.03
- CADD 23.10
- PolyPhen-2 0.93
- ClinVar: Uncertain significance (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available