S46F (p.Ser46Phe) variant of GATA1 (Erythroid transcription factor)
S46F (p.Ser46Phe) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
S46F (p.Ser46Phe) variant details
- p.Ser46Phe
- TOPMed rs1277202072
- gnomAD rs1277202072
- Uncertain significance
- Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.30
- MetaLR 0.81
- MetaSVM 0.46
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.74
- ClinVar: Uncertain significance (Diamond-Blackfan anemia; GATA binding protein 1 related thromboc)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available