R146H (p.Arg146His) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
R146H (p.Arg146His) 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 0.28 / 1. The record also includes population frequency data and structural context.
R146H (p.Arg146His) variant details
- p.Arg146His
- rs1243216801
- ClinGen CA365368179
- NCI-TCGA Cosmic COSV6067
- cosmic curated COSV60676
- Uncertain significance
- Candidiasis, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.20
- EVE 0.15
- ClinVar: Uncertain significance (Candidiasis, familial, 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available