L21H (p.Leu21His) variant of STAT2 (P52630)
L21H (p.Leu21His) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L21H (p.Leu21His) variant details
- p.Leu21His
- TOPMed rs1245963214
- gnomAD rs1245963214
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.67
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available