R458H (p.Arg458His) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
R458H (p.Arg458His) 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 0.35 / 1. The record also includes population frequency data and structural context.
R458H (p.Arg458His) variant details
- p.Arg458His
- rs1352832056
- ClinGen CA365361517
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10038
- Uncertain significance
- Candidiasis, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.17
- MetaLR 0.10
- MetaSVM -1.01
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.46
- ClinVar: Uncertain significance (Candidiasis, familial, 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available