Y63* (p.Tyr63Ter) variant of GATA1 (Erythroid transcription factor)
Y63* (p.Tyr63Ter) in GATA1 (Erythroid transcription factor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. 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.
Y63* (p.Tyr63Ter) variant details
- p.Tyr63Ter
- rs2519343851
- ClinGen CA412867211
- ClinVar RCV003427889
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 34.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available