A48A (p.Ala48Ala) variant of GNAS (P63092)
A48A (p.Ala48Ala) in GNAS (P63092) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A48A (p.Ala48Ala) variant details
- p.Ala48Ala
- gnomAD 20-58840238-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available