I5L (p.Ile5Leu) variant of STAT5B (P51692)
I5L (p.Ile5Leu) 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; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I5L (p.Ile5Leu) variant details
- p.Ile5Leu
- rs376041480
- ClinGen CA8574377
- ClinVar RCV001202890
- ClinVar RCV004597968
- Uncertain significance
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.18
- CADD 24.50
- PolyPhen-2 0.57
- SIFT 0.17
- ClinVar: Uncertain significance (Growth hormone insensitivity with immune dysregulation 1, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available