F75C (p.Phe75Cys) variant of GATA1 (Erythroid transcription factor)
F75C (p.Phe75Cys) 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 not provided; GATA binding protein 1 related thrombocytopenia with dyserythropoi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
F75C (p.Phe75Cys) variant details
- p.Phe75Cys
- rs1557020159
- ClinGen CA412867435
- ClinVar RCV003797769
- ClinVar RCV004790613
- Uncertain significance
- not provided; GATA binding protein 1 related thrombocytopenia with dyserythropoi
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.28
- MetaLR 0.84
- MetaSVM 0.49
- CADD 23.10
- PolyPhen-2 0.78
- SIFT 0.21
- ClinVar: Uncertain significance (not provided; GATA binding protein 1 related thrombocytopenia wi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)