N400K (p.Asn400Lys) variant of STAT3 (P40763)
N400K (p.Asn400Lys) 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 0.50 / 1. The record also includes population frequency data and structural context.
N400K (p.Asn400Lys) variant details
- p.Asn400Lys
- ExAC rs757298594
- TOPMed rs757298594
- gnomAD rs757298594
- Pathogenic
- STAT3-related early-onset multisystem autoimmune disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.47
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.31
- ClinVar: Pathogenic (STAT3-related early-onset multisystem autoimmune disease)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available