Q12P (p.Gln12Pro) variant of GNAS (P63092)
Q12P (p.Gln12Pro) 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.
Q12P (p.Gln12Pro) variant details
- p.Gln12Pro
- rs1225314176
- gnomAD 20-58840129-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 22.30
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available