R42R (p.Arg42Arg) variant of GNAS (P63092)
R42R (p.Arg42Arg) in GNAS (P63092) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R42R (p.Arg42Arg) variant details
- p.Arg42Arg
- rs747808766
- gnomAD 20-58840235-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 20.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available