A22G (p.Ala22Gly) variant of GNAS (P63092)
A22G (p.Ala22Gly) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- rs1346202606
- gnomAD 20-58840192-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- CADD 24.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available