T193I (p.Thr193Ile) variant of STAT2 (P52630)
T193I (p.Thr193Ile) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
T193I (p.Thr193Ile) variant details
- p.Thr193Ile
- TOPMed rs1427401724
- gnomAD rs1427401724
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.21
- CADD 0.00
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available