C3C (p.Cys3Cys) variant of GNAS (P63092)
C3C (p.Cys3Cys) in GNAS (P63092) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
C3C (p.Cys3Cys) variant details
- p.Cys3Cys
- rs772759887
- gnomAD 20-58840169-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 18.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available