A35S (p.Ala35Ser) variant of STAT3 (P40763)
A35S (p.Ala35Ser) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- rs748204289
- ClinGen CA290747730
- ClinVar RCV000814155
- TOPMed rs748204289
- Uncertain significance
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.38
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.37
- ClinVar: Uncertain significance (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)