I120L (p.Ile120Leu) variant of STAT2 (P52630)
I120L (p.Ile120Leu) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I120L (p.Ile120Leu) variant details
- p.Ile120Leu
- TOPMed rs1391968116
- gnomAD rs1391968116
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.09
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available