A48S (p.Ala48Ser) variant of GNAS (P63092)
A48S (p.Ala48Ser) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A48S (p.Ala48Ser) variant details
- p.Ala48Ser
- gnomAD 20-58840236-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 27.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available