R397Q (p.Arg397Gln) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
R397Q (p.Arg397Gln) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R397Q (p.Arg397Gln) variant details
- p.Arg397Gln
- rs755224720
- gnomAD 6-111572983-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.29
- CADD 34.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available