A470L (p.Ala470Leu) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
A470L (p.Ala470Leu) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A470L (p.Ala470Leu) variant details
- p.Ala470Leu
- gnomAD 6-111566503-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 29.30
- Population evidence available
- Structural context available
- Literature evidence available