S36F (p.Ser36Phe) variant of GATA1 (Erythroid transcription factor)
S36F (p.Ser36Phe) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S36F (p.Ser36Phe) variant details
- p.Ser36Phe
- rs782155672
- ClinGen CA10404536
- ClinVar RCV003806335
- ExAC rs782155672
- Uncertain significance
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.34
- MetaLR 0.80
- MetaSVM 0.33
- CADD 22.50
- PolyPhen-2 0.19
- SIFT 0.03
- ClinVar: Uncertain significance (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)