H332Q (p.His332Gln) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
H332Q (p.His332Gln) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H332Q (p.His332Gln) variant details
- p.His332Gln
- rs1043730
- ClinGen CA3963219
- cosmic curated COSV10741
- ClinVar RCV000454545
- Benign
- Candidiasis, familial, 8; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- AlphaMissense 0.05
- MetaLR 0.00
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.07
- ClinVar: Benign (Candidiasis, familial, 8; not specified)
- EBI: Benign (in dbSNP:rs1043730)
- UniProt: Benign (in dbSNP:rs1043730)
- Population evidence available
- Structural context available
- Cited in: Act1, an NF-kappa B-activating protein. (PMID 10962024)
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)