I120V (p.Ile120Val) variant of STAT2 (P52630)
I120V (p.Ile120Val) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I120V (p.Ile120Val) variant details
- p.Ile120Val
- TOPMed rs1391968116
- gnomAD rs1391968116
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.09
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available