E52D (p.Glu52Asp) variant of TRAF6 (TNF receptor-associated factor 6)
E52D (p.Glu52Asp) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- TOPMed rs998647138
- gnomAD rs998647138
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.16
- MetaLR 0.32
- MetaSVM -0.85
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available