Q12E (p.Gln12Glu) variant of GNAS (P63092)
Q12E (p.Gln12Glu) 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 0.37 / 1. The record also includes population frequency data and structural context.
Q12E (p.Gln12Glu) variant details
- p.Gln12Glu
- gnomAD rs797045046
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.24
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.76
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 3.3e-05)
- Structural context available