A8T (p.Ala8Thr) variant of NOD2 (Q9HC29)
A8T (p.Ala8Thr) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- gnomAD 16-50697265-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- MetaLR 0.17
- MetaSVM -0.92
- CADD 13.30
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available