R83W (p.Arg83Trp) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
R83W (p.Arg83Trp) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Candidiasis, familial, 8; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R83W (p.Arg83Trp) variant details
- p.Arg83Trp
- rs13190932
- ClinGen CA3963366
- cosmic curated COSV60675
- ClinVar RCV000455212
- Benign
- Candidiasis, familial, 8; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Benign (Candidiasis, familial, 8; not specified)
- EBI: Benign (in dbSNP:rs13190932)
- UniProt: Benign (in dbSNP:rs13190932)
- Population evidence available
- Structural context available