A22G (p.Ala22Gly) variant of GATA1 (Erythroid transcription factor)
A22G (p.Ala22Gly) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- rs139200954
- ClinGen CA10404531
- ClinVar RCV002685963
- ClinVar RCV006449015
- Benign/Likely benign
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.27
- MetaLR 0.83
- MetaSVM 0.57
- CADD 9.51
- PolyPhen-2 0.26
- SIFT 0.28
- ClinVar: Benign/Likely benign (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0086)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)