L287F (p.Leu287Phe) variant of STAT3 (P40763)
L287F (p.Leu287Phe) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.51 / 1. The record also includes published literature and structural context.
L287F (p.Leu287Phe) variant details
- p.Leu287Phe
- rs2144832509
- ClinGen CA399591288
- ClinVar RCV001995210
- Ensembl rs2144832509
- Uncertain significance
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- AlphaMissense 0.98
- MetaLR 0.36
- MetaSVM -0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)