E444K (p.Glu444Lys) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
E444K (p.Glu444Lys) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E444K (p.Glu444Lys) variant details
- p.Glu444Lys
- rs747047346
- gnomAD 6-111567641-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.42
- CADD 24.60
- PolyPhen-2 0.36
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available