L180Q (p.Leu180Gln) variant of STAT5B (P51692)
L180Q (p.Leu180Gln) 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 syndrome with immune dysregulation; Inborn genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L180Q (p.Leu180Gln) variant details
- p.Leu180Gln
- rs1031852875
- ClinGen CA290744774
- ClinVar RCV001056148
- ClinVar RCV002554395
- Uncertain significance
- Growth hormone insensitivity syndrome with immune dysregulation; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.32
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.11
- ClinVar: Uncertain significance (Growth hormone insensitivity syndrome with immune dysregulation;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)