G5S (p.Gly5Ser) variant of GNAS (P63092)
G5S (p.Gly5Ser) 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.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- rs1230896240
- gnomAD 20-58840179-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 27.40
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available