W8* (p.Trp8Ter) variant of GATA6 (Transcription factor GATA-6)
W8* (p.Trp8Ter) in GATA6 (Transcription factor GATA-6) 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 0.85 / 1. The record also includes population frequency data and structural context.
W8* (p.Trp8Ter) variant details
- p.Trp8Ter
- rs2033033528
- ClinGen CA401798306
- ClinVar RCV001255705
- Ensembl rs2033033528
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available