Q29E (p.Gln29Glu) variant of GNAS (P63092)
Q29E (p.Gln29Glu) 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 0.47 / 1. The record also includes population frequency data and structural context.
Q29E (p.Gln29Glu) variant details
- p.Gln29Glu
- Ensembl rs1057518907
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.40
- CADD 18.90
- PolyPhen-2 0.16
- SIFT 0.11
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available