Q17H (p.Gln17His) variant of GATA1 (Erythroid transcription factor)
Q17H (p.Gln17His) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q17H (p.Gln17His) variant details
- p.Gln17His
- rs12841023
- ClinGen CA329105943
- ClinVar RCV003795003
- Ensembl rs12841023
- Uncertain significance
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.28
- MetaLR 0.80
- MetaSVM 0.22
- CADD 12.40
- PolyPhen-2 0.55
- SIFT 1.00
- ClinVar: Uncertain significance (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)