R13* (p.Arg13Ter) variant of GNAS (P63092)
R13* (p.Arg13Ter) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R13* (p.Arg13Ter) variant details
- p.Arg13Ter
- rs2085661524
- gnomAD 20-58840140-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 36.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available