E28K (p.Glu28Lys) variant of NOD1 (Q9Y239)
E28K (p.Glu28Lys) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- Ensembl rs2128069878
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.30
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available