V469I (p.Val469Ile) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
V469I (p.Val469Ile) 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 not specified; Candidiasis, familial, 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V469I (p.Val469Ile) variant details
- p.Val469Ile
- rs775776262
- ClinGen CA3963089
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10038
- Uncertain significance
- not specified; Candidiasis, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -1.02
- SIFT 0.75
- EVE 0.08
- MutPred 0.63
- ClinVar: Uncertain significance (not specified; Candidiasis, familial, 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available