Y70* (p.Tyr70Ter) variant of GNAT1 (P11488)
Y70* (p.Tyr70Ter) 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 0.31 / 1. The record also includes population frequency data and structural context.
Y70* (p.Tyr70Ter) variant details
- p.Tyr70Ter
- rs762489106
- ClinGen CA2412481
- ClinVar RCV003039918
- ExAC rs762489106
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available