Q146E (p.Gln146Glu) variant of STAT5B (P51692)
Q146E (p.Gln146Glu) 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 0.29 / 1. The record also includes population frequency data and structural context.
Q146E (p.Gln146Glu) variant details
- p.Gln146Glu
- rs2080247627
- ClinGen CA399589395
- ClinVar RCV003857067
- ClinVar RCV004527012
- Uncertain significance
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.14
- CADD 21.20
- PolyPhen-2 0.08
- SIFT 0.14
- 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 1.5e-05)
- Structural context available