A48D (p.Ala48Asp) variant of GNAS (P63092)
A48D (p.Ala48Asp) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A48D (p.Ala48Asp) variant details
- p.Ala48Asp
- gnomAD 20-58840255-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 25.60
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available