V637M (p.Val637Met) variant of STAT3 (P40763)
V637M (p.Val637Met) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
V637M (p.Val637Met) variant details
- p.Val637Met
- rs113994139
- ClinGen CA341510
- NCI-TCGA Cosmic COSV5288
- cosmic curated COSV52888
- Pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Pathogenic (in HIES1)
- UniProt: Pathogenic (in HIES1)
- Structural context available
- Cited in: STAT3 mutations in the hyper-IgE syndrome. (PMID 17881745)
- Cited in: Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort. (PMID 26293184)