K642E (p.Lys642Glu) variant of STAT3 (P40763)
K642E (p.Lys642Glu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.72 / 1. The record also includes published literature and structural context.
K642E (p.Lys642Glu) variant details
- p.Lys642Glu
- rs2144683205
- ClinGen CA399582422
- NCI-TCGA Cosmic COSV5288
- cosmic curated COSV52888
- Likely pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- AlphaMissense 0.99
- MetaLR 0.73
- MetaSVM 0.52
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)