F621V (p.Phe621Val) variant of STAT3 (P40763)
F621V (p.Phe621Val) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.37 / 1. The record also includes published literature and structural context.
F621V (p.Phe621Val) variant details
- p.Phe621Val
- rs2144691319
- ClinGen CA399582782
- ClinVar RCV003050469
- UniProt VAR 037376
- Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- AlphaMissense 0.92
- MetaLR 0.35
- MetaSVM -0.50
- PolyPhen-2 0.13
- SIFT 0.03
- EVE 0.18
- ClinVar: Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- 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)