R13C (p.Arg13Cys) variant of GNAS (P63092)
R13C (p.Arg13Cys) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- rs1207504302
- gnomAD 20-58840137-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 29.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available