S18Y (p.Ser18Tyr) variant of IFNG (Interferon gamma)
S18Y (p.Ser18Tyr) in IFNG (Interferon gamma) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S18Y (p.Ser18Tyr) variant details
- p.Ser18Tyr
- rs777144079
- ExAC rs777144079
- TOPMed rs777144079
- gnomAD rs777144079
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.14
- MetaLR 0.19
- MetaSVM -0.94
- CADD 8.93
- PolyPhen-2 0.80
- SIFT 0.95
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available