Q31* (p.Gln31Ter) variant of GNAS (P63092)
Q31* (p.Gln31Ter) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- rs2089384365
- ClinGen CA409448932
- ClinVar RCV001589997
- ClinVar RCV002501956
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 18.50
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Fibrous Dysplasia / McCune-Albright Syndrome. (PMID 25719192)
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)