I112L (p.Ile112Leu) variant of STAT5B (P51692)
I112L (p.Ile112Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I112L (p.Ile112Leu) variant details
- p.Ile112Leu
- rs1190893544
- ClinGen CA399590843
- ClinVar RCV002295050
- TOPMed rs1190893544
- Uncertain significance
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.31
- CADD 20.00
- PolyPhen-2 0.26
- SIFT 0.31
- ClinVar: Uncertain significance (Growth hormone insensitivity with immune dysregulation 1, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available