D24N (p.Asp24Asn) variant of STAT3 (P40763)
D24N (p.Asp24Asn) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D24N (p.Asp24Asn) variant details
- p.Asp24Asn
- rs751281347
- ClinGen CA8575726
- ClinVar RCV000813071
- ExAC rs751281347
- Likely benign
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.29
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Likely benign (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)