S466R (p.Ser466Arg) variant of STAT1 (P42224)
S466R (p.Ser466Arg) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
S466R (p.Ser466Arg) variant details
- p.Ser466Arg
- rs763759889
- cosmic curated COSV10969
- ClinGen CA349917212
- ClinVar RCV002282710
- Pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- AlphaMissense 0.97
- MetaLR 0.68
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.53
- ClinVar: Pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies. (PMID 31448411)