G345R (p.Gly345Arg) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
G345R (p.Gly345Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
G345R (p.Gly345Arg) variant details
- p.Gly345Arg
- rs1796111146
- ClinGen CA365362872
- ClinVar RCV003032045
- Uncertain significance
- Candidiasis, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.06
- PolyPhen-2 0.23
- SIFT 0.19
- EVE 0.19
- ClinVar: Uncertain significance (Candidiasis, familial, 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available