T40I (p.Thr40Ile) variant of GNAS (P63092)
T40I (p.Thr40Ile) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- gnomAD 20-58840246-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 25.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available