A48Q (p.Ala48Gln) variant of GNAS (P63092)
A48Q (p.Ala48Gln) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A48Q (p.Ala48Gln) variant details
- p.Ala48Gln
- gnomAD 20-58840237-CCCTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.807
- CADD 32.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available