N420K (p.Asn420Lys) variant of STAT3 (P40763)
N420K (p.Asn420Lys) 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 0.52 / 1. The record also includes published literature and structural context.
N420K (p.Asn420Lys) variant details
- p.Asn420Lys
- rs869312893
- ClinGen CA357956
- ClinVar RCV000210425
- Ensembl rs869312893
- Pathogenic
- STAT3-related early-onset multisystem autoimmune disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 0.85
- MetaLR 0.49
- MetaSVM -0.22
- PolyPhen-2 0.93
- SIFT 0.07
- MutPred 0.53
- ClinVar: Pathogenic (STAT3-related early-onset multisystem autoimmune disease)
- 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)