M660T (p.Met660Thr) variant of STAT3 (P40763)
M660T (p.Met660Thr) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.69 / 1. The record also includes published literature and structural context.
M660T (p.Met660Thr) variant details
- p.Met660Thr
- rs886039434
- ClinGen CA10588650
- ClinVar RCV000255312
- ClinVar RCV000586892
- Pathogenic/Likely pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 0.97
- MetaLR 0.86
- MetaSVM 0.86
- PolyPhen-2 0.47
- SIFT 0.00
- EVE 0.18
- ClinVar: Pathogenic/Likely pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)