A53D (p.Ala53Asp) variant of GATA1 (Erythroid transcription factor)
A53D (p.Ala53Asp) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A53D (p.Ala53Asp) variant details
- p.Ala53Asp
- rs142614402
- ClinGen CA10404545
- cosmic curated COSV10093
- ClinVar RCV002083387
- Benign
- Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.48
- MetaLR 0.76
- MetaSVM 0.21
- CADD 15.30
- PolyPhen-2 0.10
- SIFT 0.26
- ClinVar: Benign (Diamond-Blackfan anemia; GATA binding protein 1 related thromboc)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ESN population (allele frequency 0.0067)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)