C174R (p.Cys174Arg) variant of STAT1 (P42224)
C174R (p.Cys174Arg) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inherited Immunodeficiency Diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
C174R (p.Cys174Arg) variant details
- p.Cys174Arg
- rs387906763
- UniProt VAR 065937
- Ensembl rs387906763
- Likely pathogenic
- Inherited Immunodeficiency Diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- AlphaMissense 0.20
- MetaLR 0.12
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.08
- EVE 0.06
- ClinVar: Likely pathogenic (Inherited Immunodeficiency Diseases)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available
- Cited in: Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. (PMID 21727188)
- Cited in: STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. (PMID 21714643)