R448M (p.Arg448Met) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
R448M (p.Arg448Met) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R448M (p.Arg448Met) variant details
- p.Arg448Met
- gnomAD 6-111567628-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.13
- CADD 24.20
- PolyPhen-2 0.82
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available