R103L (p.Arg103Leu) variant of STAT3 (P40763)
R103L (p.Arg103Leu) 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 0.64 / 1. The record also includes published literature and structural context.
R103L (p.Arg103Leu) variant details
- p.Arg103Leu
- rs1417279405
- ClinGen CA399596585
- ClinVar RCV002006308
- TOPMed rs1417279405
- Uncertain significance
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.68
- MetaLR 0.80
- MetaSVM 0.52
- PolyPhen-2 0.99
- SIFT 0.29
- EVE 0.11
- ClinVar: Uncertain significance (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Likely benign (in ADMIO1)
- UniProt: Likely benign (in ADMIO1)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)