Q80* (p.Gln80Ter) variant of STAT1 (P42224)
Q80* (p.Gln80Ter) in STAT1 (P42224) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Q80* (p.Gln80Ter) variant details
- p.Gln80Ter
- gnomAD rs1230312731
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 39.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available