E52Q (p.Glu52Gln) variant of TRAF6 (TNF receptor-associated factor 6)
E52Q (p.Glu52Gln) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E52Q (p.Glu52Gln) variant details
- p.Glu52Gln
- Ensembl rs1859712914
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.21
- MetaLR 0.48
- MetaSVM -0.31
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available