P344L (p.Pro344Leu) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
P344L (p.Pro344Leu) 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 0.30 / 1. The record also includes population frequency data and structural context.
P344L (p.Pro344Leu) variant details
- p.Pro344Leu
- rs559874598
- ClinGen CA3963213
- ClinVar RCV002614880
- 1000Genomes rs559874598
- Uncertain significance
- Candidiasis, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.02
- PolyPhen-2 0.01
- SIFT 0.14
- EVE 0.25
- ClinVar: Uncertain significance (Candidiasis, familial, 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available