G5C (p.Gly5Cys) variant of GNAS (P63092)
G5C (p.Gly5Cys) 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.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- gnomAD 20-58840179-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 28.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available