E29Q (p.Glu29Gln) variant of GATA1 (Erythroid transcription factor)
E29Q (p.Glu29Gln) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E29Q (p.Glu29Gln) variant details
- p.Glu29Gln
- TOPMed rs1480822697
- gnomAD rs1480822697
- Uncertain significance
- Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.29
- MetaLR 0.83
- MetaSVM 0.38
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Uncertain significance (Diamond-Blackfan anemia; GATA binding protein 1 related thromboc)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.5e-05)
- Structural context available