E48D (p.Glu48Asp) variant of TRAF3 (TNF receptor-associated factor 3)
E48D (p.Glu48Asp) in TRAF3 (TNF receptor-associated factor 3) 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.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- gnomAD 14-102870345-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.41
- CADD 17.20
- PolyPhen-2 0.05
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available