D478G (p.Asp478Gly) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
D478G (p.Asp478Gly) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D478G (p.Asp478Gly) variant details
- p.Asp478Gly
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10038
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.23
- CADD 26.60
- PolyPhen-2 0.75
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available