Q12R (p.Gln12Arg) variant of GNAS (P63092)
Q12R (p.Gln12Arg) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q12R (p.Gln12Arg) variant details
- p.Gln12Arg
- rs1225314176
- gnomAD 20-58840129-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 22.20
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available