H19L (p.His19Leu) variant of STAT2 (P52630)
H19L (p.His19Leu) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H19L (p.His19Leu) variant details
- p.His19Leu
- ESP rs374722858
- ExAC rs374722858
- TOPMed rs374722858
- gnomAD rs374722858
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.21
- CADD 24.10
- PolyPhen-2 0.54
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available