M329K (p.Met329Lys) variant of STAT3 (P40763)
M329K (p.Met329Lys) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.83 / 1. The record also includes published literature and structural context.
M329K (p.Met329Lys) variant details
- p.Met329Lys
- rs1555566820
- ClinGen CA399590725
- ClinVar RCV000556500
- Ensembl rs1555566820
- Pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: 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)