R13S (p.Arg13Ser) variant of GNAS (P63092)
R13S (p.Arg13Ser) 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.
R13S (p.Arg13Ser) variant details
- p.Arg13Ser
- gnomAD 20-58840137-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 26.80
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available