T40A (p.Thr40Ala) variant of GNAS (P63092)
T40A (p.Thr40Ala) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- gnomAD 20-58840245-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 17.70
- SIFT 0.19
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available