L706P (p.Leu706Pro) variant of STAT3 (P40763)
L706P (p.Leu706Pro) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
L706P (p.Leu706Pro) variant details
- p.Leu706Pro
- rs1131691476
- ClinGen CA399580232
- ClinVar RCV000493323
- ClinVar RCV000695153
- Pathogenic/Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic/Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)