H71Y (p.His71Tyr) variant of GATA1 (Erythroid transcription factor)
H71Y (p.His71Tyr) 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 Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
H71Y (p.His71Tyr) variant details
- p.His71Tyr
- rs2147305769
- ClinGen CA412867290
- ClinVar RCV001915673
- Ensembl rs2147305769
- Uncertain significance
- Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- AlphaMissense 0.19
- MetaLR 0.91
- MetaSVM 0.81
- PolyPhen-2 0.74
- SIFT 0.00
- EVE 0.16
- ClinVar: Uncertain significance (Diamond-Blackfan anemia; GATA binding protein 1 related thromboc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)