M394I (p.Met394Ile) variant of STAT3 (P40763)
M394I (p.Met394Ile) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.77 / 1. The record also includes published literature and structural context.
M394I (p.Met394Ile) variant details
- p.Met394Ile
- rs2144773624
- Ensembl rs2144773624
- ClinGen CA399588917
- ClinVar RCV001378195
- Likely pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.78
- PolyPhen-2 0.79
- SIFT 0.00
- EVE 0.54
- ClinVar: Likely pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Likely pathogenic (in ADMIO1)
- UniProt: Likely pathogenic (in ADMIO1)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)