A129T (p.Ala129Thr) variant of STAT3 (P40763)
A129T (p.Ala129Thr) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A129T (p.Ala129Thr) variant details
- p.Ala129Thr
- rs1222451818
- ClinGen CA399595232
- ClinVar RCV000804971
- TOPMed rs1222451818
- Uncertain significance
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.32
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.54
- 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 Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)