R448H (p.Arg448His) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
R448H (p.Arg448His) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R448H (p.Arg448His) variant details
- p.Arg448His
- rs1352832056
- gnomAD 6-111567637-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.26
- AlphaMissense 0.17
- MetaLR 0.10
- MetaSVM -1.01
- CADD 26.40
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available