Y62* (p.Tyr62Ter) variant of GATA1 (Erythroid transcription factor)
Y62* (p.Tyr62Ter) in GATA1 (Erythroid transcription factor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y62* (p.Tyr62Ter) variant details
- p.Tyr62Ter
- rs2519343848
- ClinGen CA412867199
- ClinVar RCV003795206
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)