P188L (p.Pro188Leu) variant of STAT5B (P51692)
P188L (p.Pro188Leu) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P188L (p.Pro188Leu) variant details
- p.Pro188Leu
- rs143092033
- ClinGen CA8574235
- ClinVar RCV002035011
- ClinVar RCV005742262
- Uncertain significance
- Inborn genetic diseases; Growth hormone insensitivity with immune dysregulation
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.06
- CADD 15.60
- PolyPhen-2 0.03
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases; Growth hormone insensitivity with immun)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)