V637L (p.Val637Leu) variant of STAT3 (P40763)
V637L (p.Val637Leu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
V637L (p.Val637Leu) variant details
- p.Val637Leu
- rs113994139
- Ensembl rs113994139
- ClinGen CA399582495
- ClinVar RCV003041305
- Likely 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: Likely 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: STAT3 Hyper IgE Syndrome. (PMID 20301786)