R13G (p.Arg13Gly) variant of GNAS (P63092)
R13G (p.Arg13Gly) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- rs202131370
- gnomAD 20-58840113-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 27.50
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.0037)
- Structural context available
- Literature evidence available