R13Q (p.Arg13Gln) variant of GNAS (P63092)
R13Q (p.Arg13Gln) 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.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- rs139302910
- gnomAD 20-58840114-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 29.20
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available