A48E (p.Ala48Glu) variant of GNAS (P63092)
A48E (p.Ala48Glu) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A48E (p.Ala48Glu) variant details
- p.Ala48Glu
- rs141238454
- gnomAD 20-58840273-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 26.40
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available