D11H (p.Asp11His) variant of NOD2 (Q9HC29)
D11H (p.Asp11His) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
D11H (p.Asp11His) variant details
- p.Asp11His
- rs746379299
- gnomAD 16-50697274-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- MetaLR 0.13
- MetaSVM -1.00
- CADD 0.04
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available