A48P (p.Ala48Pro) variant of GNAS (P63092)
A48P (p.Ala48Pro) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A48P (p.Ala48Pro) variant details
- p.Ala48Pro
- rs557714686
- gnomAD 20-58840242-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 29.20
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- Literature evidence available