D11G (p.Asp11Gly) variant of GNAS (P63092)
D11G (p.Asp11Gly) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D11G (p.Asp11Gly) variant details
- p.Asp11Gly
- gnomAD 20-58840162-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 27.10
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available