F621L (p.Phe621Leu) variant of STAT3 (P40763)
F621L (p.Phe621Leu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.49 / 1. The record also includes published literature and structural context.
F621L (p.Phe621Leu) variant details
- p.Phe621Leu
- rs1555563854
- ClinGen CA399582773
- ClinVar RCV000586185
- Ensembl rs1555563854
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 1.00
- MetaLR 0.44
- MetaSVM -0.33
- PolyPhen-2 0.00
- SIFT 0.06
- EVE 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in HIES1)
- UniProt: Pathogenic (in HIES1)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)