R28* (p.Arg28Ter) variant of GNAT1 (P11488)
R28* (p.Arg28Ter) in GNAT1 (P11488) 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 0.74 / 1. The record also includes population frequency data and structural context.
R28* (p.Arg28Ter) variant details
- p.Arg28Ter
- rs774214573
- ClinGen CA2412432
- NCI-TCGA Cosmic COSV5003
- cosmic curated COSV50031
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available