T155M (p.Thr155Met) variant of STAT5B (P51692)
T155M (p.Thr155Met) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; S. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
T155M (p.Thr155Met) variant details
- p.Thr155Met
- rs138255473
- ClinGen CA8574271
- ClinVar RCV001039345
- ClinVar RCV005235505
- Uncertain significance
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; S
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.49
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Growth hormone insensitivity with immune dysregulation 1, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available