K658N (p.Lys658Asn) variant of STAT3 (P40763)
K658N (p.Lys658Asn) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of STAT3-related early-onset multisystem autoimmune disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
K658N (p.Lys658Asn) variant details
- p.Lys658Asn
- rs587777650
- ClinGen CA170590
- cosmic curated COSV52895
- ClinVar RCV000133539
- Likely pathogenic
- STAT3-related early-onset multisystem autoimmune disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.99
- MetaLR 0.67
- MetaSVM 0.27
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.53
- ClinVar: Likely 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: Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. (PMID 25359994)