E56D (p.Glu56Asp) variant of NOD1 (Q9Y239)
E56D (p.Glu56Asp) in NOD1 (Q9Y239) 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 and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- TOPMed rs1407019652
- gnomAD rs1407019652
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.20
- CADD 23.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available