D462G (p.Asp462Gly) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
D462G (p.Asp462Gly) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D462G (p.Asp462Gly) variant details
- p.Asp462Gly
- gnomAD 6-111566514-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.45
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available