Q477H (p.Gln477His) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
Q477H (p.Gln477His) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q477H (p.Gln477His) variant details
- p.Gln477His
- gnomAD 6-111566492-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.24
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available