M1V (p.Met1Val) variant of NOD2 (Q9HC29)
M1V (p.Met1Val) 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 0.30 / 1. The record also includes population frequency data and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1255636125
- ClinGen CA395864207
- ClinVar RCV002261975
- Uncertain significance
- Autoinflammatory syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- MetaLR 0.14
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Autoinflammatory syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available