E84Q (p.Glu84Gln) variant of NOD1 (Q9Y239)
E84Q (p.Glu84Gln) in NOD1 (Q9Y239) 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.
E84Q (p.Glu84Gln) variant details
- p.Glu84Gln
- ESP rs376537154
- gnomAD rs376537154
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.25
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available