E3Q (p.Glu3Gln) variant of NOD2 (Q9HC29)
E3Q (p.Glu3Gln) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Blau syndrome; Regional enteritis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- rs976567823
- ClinGen CA281248056
- ClinVar RCV002529871
- ClinVar RCV003420111
- Uncertain significance
- Blau syndrome; Regional enteritis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- MetaLR 0.15
- MetaSVM -0.97
- CADD 7.38
- SIFT 0.00
- ClinVar: Uncertain significance (Blau syndrome; Regional enteritis; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available