F3V (p.Phe3Val) variant of GATA1 (Erythroid transcription factor)
F3V (p.Phe3Val) 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 0.55 / 1. The record also includes population frequency data and structural context.
F3V (p.Phe3Val) variant details
- p.Phe3Val
- gnomAD rs1404134941
- Uncertain significance
- Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.48
- MetaLR 0.86
- MetaSVM 0.65
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (Diamond-Blackfan anemia; GATA binding protein 1 related thromboc)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00017)
- Structural context available