S98Y (p.Ser98Tyr) variant of STAT2 (P52630)
S98Y (p.Ser98Tyr) in STAT2 (P52630) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S98Y (p.Ser98Tyr) variant details
- p.Ser98Tyr
- gnomAD rs1294214696
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.06
- CADD 13.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available