R103Q (p.Arg103Gln) variant of STAT3 (P40763)
R103Q (p.Arg103Gln) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R103Q (p.Arg103Gln) variant details
- p.Arg103Gln
- rs1417279405
- ClinGen CA399596587
- cosmic curated COSV10458
- ClinVar RCV001875022
- Likely benign
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.38
- AlphaMissense 0.68
- MetaLR 0.80
- MetaSVM 0.52
- CADD 24.60
- PolyPhen-2 0.99
- ClinVar: Likely benign (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Likely benign (in ADMIO1)
- UniProt: Likely benign (in ADMIO1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)