E27D (p.Glu27Asp) variant of NOD2 (Q9HC29)
E27D (p.Glu27Asp) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- gnomAD 16-50699567-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- MetaLR 0.10
- MetaSVM -1.06
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available