G5A (p.Gly5Ala) variant of NOD2 (Q9HC29)
G5A (p.Gly5Ala) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- gnomAD 16-50697257-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- MetaLR 0.13
- MetaSVM -0.99
- CADD 10.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available