S54G (p.Ser54Gly) variant of GNAS (P63092)
S54G (p.Ser54Gly) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
S54G (p.Ser54Gly) variant details
- p.Ser54Gly
- gnomAD rs2089973541
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.92
- CADD 29.90
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available