D382E (p.Asp382Glu) variant of NOD2 (Q9HC29)
D382E (p.Asp382Glu) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Regional enteritis; Blau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature.
D382E (p.Asp382Glu) variant details
- p.Asp382Glu
- rs104895476
- ClinGen CA117027
- ClinVar RCV000416482
- ClinVar RCV003764528
- Pathogenic
- Regional enteritis; Blau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- AlphaMissense 0.91
- MetaLR 0.69
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Regional enteritis; Blau syndrome)
- EBI: Pathogenic (in BLAUS)
- UniProt: Pathogenic (in BLAUS)
- Cited in: CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. (PMID 11875755)
- Cited in: Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic… (PMID 15459013)