A18D (p.Ala18Asp) variant of GNAS (P63092)
A18D (p.Ala18Asp) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 20-58840854-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 15.60
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available