R20H (p.Arg20His) variant of GNAS (P63092)
R20H (p.Arg20His) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- rs774700482
- gnomAD 20-58840183-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 29.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available