C101* (p.Cys101Ter) variant of STAT5B (P51692)
C101* (p.Cys101Ter) 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 0.45 / 1. The record also includes population frequency data and structural context.
C101* (p.Cys101Ter) variant details
- p.Cys101Ter
- rs1156986606
- ClinGen CA399590972
- ClinVar RCV003614753
- gnomAD rs1156986606
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available