R93C (p.Arg93Cys) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
R93C (p.Arg93Cys) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R93C (p.Arg93Cys) variant details
- p.Arg93Cys
- rs376682410
- ClinGen CA3963358
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10038
- Uncertain significance
- Candidiasis, familial, 8; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -1.01
- PolyPhen-2 0.02
- SIFT 0.00
- EVE 0.20
- ClinVar: Uncertain significance (Candidiasis, familial, 8; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available