H143R (p.His143Arg) variant of STAT2 (P52630)
H143R (p.His143Arg) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
H143R (p.His143Arg) variant details
- p.His143Arg
- TOPMed rs1388461421
- gnomAD rs1388461421
- Missense
- Variant Prioritization Score for Impact Estimate 0.0835
- REVEL 0.04
- CADD 9.36
- PolyPhen-2 0.04
- SIFT 0.54
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available