E80K (p.Glu80Lys) variant of NOD1 (Q9Y239)
E80K (p.Glu80Lys) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E80K (p.Glu80Lys) variant details
- p.Glu80Lys
- ESP rs148120693
- ExAC rs148120693
- TOPMed rs148120693
- gnomAD rs148120693
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.19
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available