V136M (p.Val136Met) variant of STAT3 (P40763)
V136M (p.Val136Met) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.38 / 1. The record also includes population frequency data and structural context.
V136M (p.Val136Met) variant details
- p.Val136Met
- rs1008624238
- TOPMed rs1008624238
- gnomAD rs1008624238
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.13
- CADD 20.70
- PolyPhen-2 0.11
- SIFT 0.61
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available