T58I (p.Thr58Ile) variant of STAT5B (P51692)
T58I (p.Thr58Ile) 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 0.38 / 1. The record also includes population frequency data and structural context.
T58I (p.Thr58Ile) variant details
- p.Thr58Ile
- rs763601763
- ClinGen CA8574352
- ClinVar RCV003413234
- ClinVar RCV005100041
- Uncertain significance
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.15
- CADD 22.00
- PolyPhen-2 0.06
- SIFT 0.22
- ClinVar: Uncertain significance (Growth hormone insensitivity with immune dysregulation 1, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available