V18I (p.Val18Ile) variant of NOD2 (Q9HC29)
V18I (p.Val18Ile) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Regional enteritis; Blau syndrome; Autoinflammatory syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V18I (p.Val18Ile) variant details
- p.Val18Ile
- rs886052043
- ClinGen CA10643713
- ClinVar RCV000356668
- ClinVar RCV001782787
- Uncertain significance
- Regional enteritis; Blau syndrome; Autoinflammatory syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- MetaLR 0.15
- MetaSVM -0.92
- CADD 5.53
- SIFT 0.13
- ClinVar: Uncertain significance (Regional enteritis; Blau syndrome; Autoinflammatory syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available