Y16* (p.Tyr16Ter) variant of GATA5 (Transcription factor GATA-5)
Y16* (p.Tyr16Ter) in GATA5 (Transcription factor GATA-5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign in the context of in CHTD5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Y16* (p.Tyr16Ter) variant details
- p.Tyr16Ter
- 1000Genomes rs782349038
- ExAC rs782349038
- TOPMed rs782349038
- gnomAD rs782349038
- Likely benign
- in CHTD5
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 35.00
- EBI: Likely benign (in CHTD5)
- UniProt: Likely benign (in CHTD5)
- Population evidence available
- Structural context available