D19N (p.Asp19Asn) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
D19N (p.Asp19Asn) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D19N (p.Asp19Asn) variant details
- p.Asp19Asn
- rs33980500
- ClinGen CA129379
- cosmic curated COSV60675
- ClinVar RCV000023605
- Benign
- Candidiasis, familial, 8; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.38
- MetaLR 0.24
- MetaSVM -0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Benign (Candidiasis, familial, 8; not specified)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. (PMID 20953186)
- Cited in: Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. (PMID 20953188)