V136L (p.Val136Leu) variant of STAT3 (P40763)
V136L (p.Val136Leu) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V136L (p.Val136Leu) variant details
- p.Val136Leu
- rs1008624238
- TOPMed rs1008624238
- gnomAD rs1008624238
- ClinGen CA399595159
- Uncertain significance
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.18
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.17
- 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 Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)