E27K (p.Glu27Lys) variant of NOD2 (Q9HC29)
E27K (p.Glu27Lys) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- rs780204985
- gnomAD 16-50699574-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- MetaLR 0.10
- MetaSVM -1.07
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available