R20G (p.Arg20Gly) variant of GNAS (P63092)
R20G (p.Arg20Gly) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- rs1211258431
- gnomAD 20-58840185-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 27.80
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available