V469M (p.Val469Met) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
V469M (p.Val469Met) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V469M (p.Val469Met) variant details
- p.Val469Met
- rs1237812708
- gnomAD 6-111566512-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.31
- AlphaMissense 0.92
- MetaLR 0.16
- MetaSVM -0.86
- CADD 26.10
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available