Q177P (p.Gln177Pro) variant of STAT5B (P51692)
Q177P (p.Gln177Pro) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
Q177P (p.Gln177Pro) variant details
- p.Gln177Pro
- rs1555549674
- ClinGen CA399588817
- ClinVar RCV000625745
- ClinVar RCV001254778
- Pathogenic
- Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- AlphaMissense 0.99
- MetaLR 0.42
- MetaSVM -0.13
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.68
- ClinVar: Pathogenic (Growth hormone insensitivity syndrome with immune dysregulation)
- EBI: Pathogenic (in GHISID2)
- UniProt: Pathogenic (in GHISID2)
- Structural context available
- Cited in: Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. (PMID 29844444)