T48N (p.Thr48Asn) variant of GATA1 (Erythroid transcription factor)
T48N (p.Thr48Asn) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T48N (p.Thr48Asn) variant details
- p.Thr48Asn
- rs1223699669
- ClinGen CA412867054
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64963
- Uncertain significance
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.33
- MetaLR 0.86
- MetaSVM 0.77
- CADD 21.80
- PolyPhen-2 0.52
- SIFT 0.21
- ClinVar: Uncertain significance (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)