N646K (p.Asn646Lys) variant of STAT3 (P40763)
N646K (p.Asn646Lys) 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 0.61 / 1. The record also includes published literature and structural context.
N646K (p.Asn646Lys) variant details
- p.Asn646Lys
- rs587777649
- ClinGen CA170587
- ClinVar RCV000133538
- UniProt VAR 071886
- Pathogenic
- STAT3-related early-onset multisystem autoimmune disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.74
- MetaLR 0.77
- MetaSVM 0.57
- PolyPhen-2 0.34
- SIFT 0.06
- EVE 0.10
- 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: Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. (PMID 36228738)