A7V (p.Ala7Val) variant of STAT5B (P51692)
A7V (p.Ala7Val) 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 record also includes structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs2508803909
- ClinGen CA399594289
- ClinVar RCV003613825
- Uncertain significance
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Missense
- ClinVar: Uncertain significance (Growth hormone insensitivity with immune dysregulation 1, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available