E2K (p.Glu2Lys) variant of NOD1 (Q9Y239)
E2K (p.Glu2Lys) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- gnomAD rs1197086439
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.24
- CADD 24.40
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available