R93H (p.Arg93His) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
R93H (p.Arg93His) 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 0.31 / 1. The record also includes population frequency data and structural context.
R93H (p.Arg93His) variant details
- p.Arg93His
- rs141777182
- ClinGen CA3963357
- cosmic curated COSV60675
- ClinVar RCV003115348
- Uncertain significance
- Candidiasis, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.16
- MetaLR 0.08
- MetaSVM -1.01
- PolyPhen-2 0.22
- SIFT 0.01
- EVE 0.21
- ClinVar: Uncertain significance (Candidiasis, familial, 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available