A55T (p.Ala55Thr) variant of GATA1 (Erythroid transcription factor)
A55T (p.Ala55Thr) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- rs150572851
- ClinGen CA159883
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64962
- Benign
- Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.25
- MetaLR 0.71
- MetaSVM 0.17
- CADD 15.20
- PolyPhen-2 0.27
- SIFT 0.28
- ClinVar: Benign (Diamond-Blackfan anemia; GATA binding protein 1 related thromboc)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ITU population (allele frequency 0.0069)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)