S48I (p.Ser48Ile) variant of STAT3 (P40763)
S48I (p.Ser48Ile) 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 0.37 / 1. The record also includes population frequency data and structural context.
S48I (p.Ser48Ile) variant details
- p.Ser48Ile
- ExAC rs766875947
- TOPMed rs766875947
- gnomAD rs766875947
- Likely benign
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.10
- CADD 22.50
- PolyPhen-2 0.27
- SIFT 0.20
- 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 2.4e-05)
- Structural context available