T536I (p.Thr536Ile) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
T536I (p.Thr536Ile) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Candidiasis, familial, 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
T536I (p.Thr536Ile) variant details
- p.Thr536Ile
- rs397518485
- ClinGen CA145348
- ClinVar RCV000074416
- UniProt VAR 070904
- Pathogenic
- Candidiasis, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.99
- MetaLR 0.18
- MetaSVM -0.90
- SIFT 0.00
- EVE 0.66
- MutPred 0.70
- ClinVar: Pathogenic (Candidiasis, familial, 8)
- EBI: Pathogenic (in CANDF8)
- UniProt: Pathogenic (in CANDF8)
- Structural context available
- Cited in: An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. (PMID 24120361)