Q29* (p.Gln29Ter) variant of GNAS (P63092)
Q29* (p.Gln29Ter) in GNAS (P63092) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q29* (p.Gln29Ter) variant details
- p.Gln29Ter
- rs1057518907
- ClinGen CA16043565
- cosmic curated COSV55670
- ClinVar RCV000414783
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 19.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Fibrous Dysplasia / McCune-Albright Syndrome. (PMID 25719192)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)