A8D (p.Ala8Asp) variant of NOD2 (Q9HC29)
A8D (p.Ala8Asp) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- gnomAD 16-50697266-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- MetaLR 0.14
- MetaSVM -1.01
- CADD 7.24
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available