R13P (p.Arg13Pro) variant of GNAS (P63092)
R13P (p.Arg13Pro) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R13P (p.Arg13Pro) variant details
- p.Arg13Pro
- rs139302910
- gnomAD 20-58840114-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 29.50
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available