A8V (p.Ala8Val) variant of NOD2 (Q9HC29)
A8V (p.Ala8Val) 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.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs373796134
- gnomAD 16-50697266-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- MetaLR 0.11
- MetaSVM -0.93
- CADD 7.56
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available