A48T (p.Ala48Thr) variant of GNAS (P63092)
A48T (p.Ala48Thr) 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.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- gnomAD 20-58840236-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 29.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available