S122C (p.Ser122Cys) variant of GNAQ (P50148)
S122C (p.Ser122Cys) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S122C (p.Ser122Cys) variant details
- p.Ser122Cys
- TOPMed rs1351194942
- gnomAD rs1351194942
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.38
- MetaLR 0.61
- MetaSVM -0.06
- CADD 23.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available