Q19E (p.Gln19Glu) variant of GNAS (P63092)
Q19E (p.Gln19Glu) in GNAS (P63092) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q19E (p.Gln19Glu) variant details
- p.Gln19Glu
- TOPMed rs2089380075
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.33
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.42
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available