A18C (p.Ala18Cys) variant of GNAS (P63092)
A18C (p.Ala18Cys) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A18C (p.Ala18Cys) variant details
- p.Ala18Cys
- gnomAD 20-58840124-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 27.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available