D462E (p.Asp462Glu) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
D462E (p.Asp462Glu) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D462E (p.Asp462Glu) variant details
- p.Asp462Glu
- rs150436455
- gnomAD 6-111566513-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.28
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available