K632N (p.Lys632Asn) variant of STAT5B (P51692)
K632N (p.Lys632Asn) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dom. The record also includes structural context.
K632N (p.Lys632Asn) variant details
- p.Lys632Asn
- rs2508724440
- ClinGen CA399576558
- ClinVar RCV003158006
- Likely pathogenic
- Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dom
- Missense
- ClinVar: Likely pathogenic (Growth hormone insensitivity syndrome with immune dysregulation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available