P639L (p.Pro639Leu) variant of STAT3 (P40763)
P639L (p.Pro639Leu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant. The record also includes structural context.
P639L (p.Pro639Leu) variant details
- p.Pro639Leu
- NCI-TCGA Cosmic COSV5288
- cosmic curated COSV52884
- Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Missense
- ClinVar: Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant)
- UniProt: Likely pathogenic
- Structural context available