R13L (p.Arg13Leu) variant of GNAS (P63092)
R13L (p.Arg13Leu) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- gnomAD 20-58840114-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 28.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available