E444D (p.Glu444Asp) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
E444D (p.Glu444Asp) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E444D (p.Glu444Asp) variant details
- p.Glu444Asp
- rs200991285
- gnomAD 6-111567639-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.22
- CADD 22.30
- PolyPhen-2 0.49
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available