M1I (p.Met1Ile) variant of NOD2 (Q9HC29)
M1I (p.Met1Ile) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoinflammatory syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2150776459
- ClinGen CA395864211
- ClinVar RCV002261982
- Uncertain significance
- Autoinflammatory syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- MetaLR 0.17
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Autoinflammatory syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available