Q12Q (p.Gln12Gln) variant of GNAS (P63092)
Q12Q (p.Gln12Gln) in GNAS (P63092) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q12Q (p.Gln12Gln) variant details
- p.Gln12Gln
- rs1274269300
- gnomAD 20-58840133-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 19.20
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Literature evidence available