Y57* (p.Tyr57Ter) variant of GNAT1 (P11488)
Y57* (p.Tyr57Ter) in GNAT1 (P11488) 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 0.59 / 1. The record also includes population frequency data and structural context.
Y57* (p.Tyr57Ter) variant details
- p.Tyr57Ter
- rs190126440
- ClinGen CA74601059
- ClinVar RCV003820706
- 1000Genomes rs190126440
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available