H19R (p.His19Arg) variant of STAT2 (P52630)
H19R (p.His19Arg) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H19R (p.His19Arg) variant details
- p.His19Arg
- ESP rs374722858
- ExAC rs374722858
- TOPMed rs374722858
- gnomAD rs374722858
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.18
- CADD 25.10
- PolyPhen-2 0.70
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available