R152* (p.Arg152Ter) variant of STAT5B (P51692)
R152* (p.Arg152Ter) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R152* (p.Arg152Ter) variant details
- p.Arg152Ter
- rs121908502
- ClinGen CA117691
- ClinVar RCV000006051
- Ensembl rs121908502
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene… (PMID 17030597)