C324R (p.Cys324Arg) variant of STAT1 (P42224)
C324R (p.Cys324Arg) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.88 / 1. The record also includes structural context.
C324R (p.Cys324Arg) variant details
- p.Cys324Arg
- rs1574653439
- ClinGen CA349920801
- ClinVar RCV000797110
- ClinVar RCV001270805
- Likely pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.92
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.73
- ClinVar: Likely pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available