A48V (p.Ala48Val) variant of GNAS (P63092)
A48V (p.Ala48Val) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- rs755781835
- gnomAD 20-58840237-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 27.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available