Q12* (p.Gln12Ter) variant of GNAS (P63092)
Q12* (p.Gln12Ter) 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.
Q12* (p.Gln12Ter) variant details
- p.Gln12Ter
- rs797045046
- ClinGen CA250351
- ClinVar RCV000191090
- ClinVar RCV001265981
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 18.90
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)