A39T (p.Ala39Thr) variant of GNAS (P63092)
A39T (p.Ala39Thr) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- gnomAD 20-58840197-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 28.70
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available