S51N (p.Ser51Asn) variant of GATA1 (Erythroid transcription factor)
S51N (p.Ser51Asn) 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 Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
S51N (p.Ser51Asn) variant details
- p.Ser51Asn
- rs2062674054
- ClinGen CA412867086
- ClinVar RCV001038757
- Ensembl rs2062674054
- Uncertain significance
- Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.10
- MetaLR 0.70
- MetaSVM -0.19
- PolyPhen-2 0.00
- SIFT 0.44
- MutPred 0.20
- ClinVar: Uncertain significance (Diamond-Blackfan anemia; GATA binding protein 1 related thromboc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)