R200Q (p.Arg200Gln) variant of STAT5B (P51692)
R200Q (p.Arg200Gln) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Growth hormone insensitivity with immune dysregulation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R200Q (p.Arg200Gln) variant details
- p.Arg200Gln
- rs779220548
- ClinGen CA8574230
- ClinVar RCV001373322
- ClinVar RCV002548671
- Uncertain significance
- Inborn genetic diseases; Growth hormone insensitivity with immune dysregulation
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.16
- CADD 23.80
- PolyPhen-2 0.59
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases; Growth hormone insensitivity with immun)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)
- 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)