D165G (p.Asp165Gly) variant of STAT1 (P42224)
D165G (p.Asp165Gly) 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 0.65 / 1. The record also includes published literature and structural context.
D165G (p.Asp165Gly) variant details
- p.Asp165Gly
- rs387906764
- ClinGen CA128936
- ClinVar RCV000022992
- UniProt VAR 065934
- Pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.90
- MetaLR 0.72
- MetaSVM 0.54
- PolyPhen-2 0.01
- SIFT 0.01
- EVE 0.50
- ClinVar: Pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- 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: New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and… (PMID 23709754)