N567D (p.Asn567Asp) variant of STAT3 (P40763)
N567D (p.Asn567Asp) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
N567D (p.Asn567Asp) variant details
- p.Asn567Asp
- rs2144697778
- ClinGen CA399583628
- ClinVar RCV001594427
- Ensembl rs2144697778
- Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.67
- MetaLR 0.53
- MetaSVM -0.01
- PolyPhen-2 0.27
- SIFT 0.07
- EVE 0.12
- ClinVar: Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)