L706M (p.Leu706Met) variant of STAT3 (P40763)
L706M (p.Leu706Met) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.71 / 1. The record also includes published literature and structural context.
L706M (p.Leu706Met) variant details
- p.Leu706Met
- rs2144622987
- ClinGen CA399580235
- ClinVar RCV001967161
- Ensembl rs2144622987
- Pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 0.44
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 0.99
- SIFT 0.14
- EVE 0.26
- ClinVar: 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)