A22T (p.Ala22Thr) variant of GATA1 (Erythroid transcription factor)
A22T (p.Ala22Thr) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- rs782188059
- ClinGen CA10404530
- ClinVar RCV002233493
- ExAC rs782188059
- Benign
- Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.30
- MetaLR 0.80
- MetaSVM 0.46
- CADD 10.50
- PolyPhen-2 0.26
- SIFT 0.23
- ClinVar: Benign (Diamond-Blackfan anemia; GATA binding protein 1 related thromboc)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00026)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)