Q9* (p.Gln9Ter) variant of STAT1 (P42224)
Q9* (p.Gln9Ter) in STAT1 (P42224) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
Q9* (p.Gln9Ter) variant details
- p.Gln9Ter
- rs2470570568
- ClinGen CA349928586
- ClinVar RCV003224739
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available