R42G (p.Arg42Gly) variant of GNAS (P63092)
R42G (p.Arg42Gly) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R42G (p.Arg42Gly) variant details
- p.Arg42Gly
- rs1273364707
- gnomAD 20-58840233-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 28.10
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available