Q41* (p.Gln41Ter) variant of STAT5B (P51692)
Q41* (p.Gln41Ter) in STAT5B (P51692) 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 0.87 / 1. The record also includes population frequency data and structural context.
Q41* (p.Gln41Ter) variant details
- p.Gln41Ter
- rs767959957
- ClinGen CA8574374
- ClinVar RCV001387244
- ExAC rs767959957
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.87
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available