T121S (p.Thr121Ser) variant of STAT3 (P40763)
T121S (p.Thr121Ser) in STAT3 (P40763) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T121S (p.Thr121Ser) variant details
- p.Thr121Ser
- ExAC rs751614036
- TOPMed rs751614036
- gnomAD rs751614036
- Likely benign
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.07
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.77
- ClinVar: Likely benign (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available