E415K (p.Glu415Lys) variant of STAT3 (P40763)
E415K (p.Glu415Lys) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of STAT3-related early-onset multisystem autoimmune disease; Hyper-IgE recurrent in. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
E415K (p.Glu415Lys) variant details
- p.Glu415Lys
- rs193922717
- ClinGen CA260534
- cosmic curated COSV52884
- ClinVar RCV000030464
- Uncertain significance
- STAT3-related early-onset multisystem autoimmune disease; Hyper-IgE recurrent in
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- AlphaMissense 0.99
- MetaLR 0.78
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in ADMIO1)
- UniProt: Pathogenic (in ADMIO1)
- Structural context available
- Cited in: Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. (PMID 25359994)
- Cited in: Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. (PMID 36228738)