A337T (p.Ala337Thr) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
A337T (p.Ala337Thr) 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 0.28 / 1. The record also includes population frequency data and structural context.
A337T (p.Ala337Thr) variant details
- p.Ala337Thr
- rs751906100
- ClinGen CA3963216
- NCI-TCGA Cosmic COSV6067
- cosmic curated COSV60676
- Uncertain significance
- not specified; Candidiasis, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -0.95
- PolyPhen-2 0.13
- SIFT 0.24
- EVE 0.20
- ClinVar: Uncertain significance (not specified; Candidiasis, familial, 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available