P280S (p.Pro280Ser) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
P280S (p.Pro280Ser) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Candidiasis, familial, 8. The record also includes structural context.
P280S (p.Pro280Ser) variant details
- p.Pro280Ser
- rs2536178957
- ClinGen CA365365588
- ClinVar RCV003038574
- Uncertain significance
- Candidiasis, familial, 8
- Missense
- ClinVar: Uncertain significance (Candidiasis, familial, 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available