S636F (p.Ser636Phe) variant of STAT3 (P40763)
S636F (p.Ser636Phe) 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 0.73 / 1. The record also includes published literature and structural context.
S636F (p.Ser636Phe) variant details
- p.Ser636Phe
- rs2144683812
- ClinGen CA399582504
- NCI-TCGA Cosmic COSV5289
- cosmic curated COSV52890
- Pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- 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)