D18E (p.Asp18Glu) variant of TRAF6 (TNF receptor-associated factor 6)
D18E (p.Asp18Glu) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- TOPMed rs1453088768
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.25
- MetaLR 0.35
- MetaSVM -0.35
- CADD 20.20
- PolyPhen-2 0.14
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available