R73L (p.Arg73Leu) variant of STAT2 (P52630)
R73L (p.Arg73Leu) in STAT2 (P52630) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R73L (p.Arg73Leu) variant details
- p.Arg73Leu
- cosmic curated COSV99041
- ESP rs375433807
- ExAC rs375433807
- TOPMed rs375433807
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.32
- CADD 23.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available