G5D (p.Gly5Asp) variant of GNAS (P63092)
G5D (p.Gly5Asp) 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.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- gnomAD 20-58840180-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 27.10
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available