D47V (p.Asp47Val) variant of STAT5B (P51692)
D47V (p.Asp47Val) in STAT5B (P51692) is a missense change. Clinical records from ClinVar 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.
D47V (p.Asp47Val) variant details
- p.Asp47Val
- ExAC rs750113759
- gnomAD rs750113759
- Uncertain significance
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Missense
- ClinVar: Uncertain significance (Growth hormone insensitivity with immune dysregulation 1, autoso)
- UniProt: Uncertain significance
- Structural context available