K392R (p.Lys392Arg) variant of STAT3 (P40763)
K392R (p.Lys392Arg) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of STAT3-related early-onset multisystem autoimmune disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
K392R (p.Lys392Arg) variant details
- p.Lys392Arg
- rs587777648
- ClinGen CA170585
- ClinVar RCV000133537
- UniProt VAR 071885
- Pathogenic
- STAT3-related early-onset multisystem autoimmune disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 0.58
- MetaLR 0.80
- MetaSVM 0.71
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic (STAT3-related early-onset multisystem autoimmune disease)
- EBI: Pathogenic (in ADMIO1)
- UniProt: Pathogenic (in ADMIO1)
- Structural context available
- Cited in: Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. (PMID 25038750)
- Cited in: STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate… (PMID 28579554)