T600S (p.Thr600Ser) variant of STAT3 (P40763)
T600S (p.Thr600Ser) 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 0.52 / 1. The record also includes population frequency data and structural context.
T600S (p.Thr600Ser) variant details
- p.Thr600Ser
- ExAC rs765516506
- gnomAD rs765516506
- Likely benign
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.38
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Likely benign (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available