N5S (p.Asn5Ser) variant of STAT3 (P40763)
N5S (p.Asn5Ser) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N5S (p.Asn5Ser) variant details
- p.Asn5Ser
- rs1041081083
- ClinGen CA290747772
- ClinVar RCV002628146
- ClinVar RCV004790380
- Conflicting interpretations
- not provided; STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.17
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.43
- ClinVar: Conflicting classifications of pathogenicity (not provided; STAT3 gain of function; Hyper-IgE recurrent infect)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)