A8G (p.Ala8Gly) variant of NOD2 (Q9HC29)
A8G (p.Ala8Gly) 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.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- rs373796134
- gnomAD 16-50697266-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- MetaLR 0.14
- MetaSVM -1.02
- CADD 7.08
- SIFT 0.31
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Literature evidence available