D11E (p.Asp11Glu) variant of NOD2 (Q9HC29)
D11E (p.Asp11Glu) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
D11E (p.Asp11Glu) variant details
- p.Asp11Glu
- gnomAD 16-50697276-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- MetaLR 0.13
- MetaSVM -0.95
- CADD 0.58
- SIFT 0.45
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available