S7G (p.Ser7Gly) variant of GNAS (P63092)
S7G (p.Ser7Gly) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S7G (p.Ser7Gly) variant details
- p.Ser7Gly
- Ensembl rs2089375186
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.28
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available