A22A (p.Ala22Ala) variant of GNAS (P63092)
A22A (p.Ala22Ala) in GNAS (P63092) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- rs1208595553
- gnomAD 20-58840193-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 19.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available