A39A (p.Ala39Ala) variant of GNAS (P63092)
A39A (p.Ala39Ala) in GNAS (P63092) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A39A (p.Ala39Ala) variant details
- p.Ala39Ala
- rs1190126697
- gnomAD 20-58840199-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 16.20
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available