E10K (p.Glu10Lys) variant of NOD1 (Q9Y239)
E10K (p.Glu10Lys) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- TOPMed rs1000744101
- gnomAD rs1000744101
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.04
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available