Q177R (p.Gln177Arg) variant of STAT5B (P51692)
Q177R (p.Gln177Arg) 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; I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
Q177R (p.Gln177Arg) variant details
- p.Gln177Arg
- rs1555549674
- ClinGen CA399588818
- ClinVar RCV003857524
- ClinVar RCV004369511
- Uncertain significance
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; I
- 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: Uncertain significance (Growth hormone insensitivity with immune dysregulation 1, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)