G6V (p.Gly6Val) variant of NOD2 (Q9HC29)
G6V (p.Gly6Val) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- gnomAD 16-50697260-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- MetaLR 0.13
- MetaSVM -1.01
- CADD 1.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available