Q19* (p.Gln19Ter) variant of GNAS (P63092)

Name: GNAS Q19* (p.Gln19Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

Q19* (p.Gln19Ter) 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 0.48 / 1. The record also includes population frequency data and structural context.

Q19* (p.Gln19Ter) variant details

p.Gln19Ter
rs2089380075
ClinGen CA409448737
ClinVar RCV001817685
TOPMed rs2089380075
Pathogenic
Stop Gained
Variant Prioritization Score for Impact Estimate 0.482
CADD 18.90
EBI: Pathogenic
UniProt: Pathogenic
Population evidence available
Structural context available