R20Q (p.Arg20Gln) variant of GNAS (P63092)
R20Q (p.Arg20Gln) 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.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- rs2085663119
- gnomAD 20-58840186-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- CADD 29.80
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available