E383K (p.Glu383Lys) variant of NOD2 (Q9HC29)
E383K (p.Glu383Lys) 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 0.80 / 1. The record also includes population frequency data and published literature.
E383K (p.Glu383Lys) variant details
- p.Glu383Lys
- rs104895477
- ClinGen CA117031
- NCI-TCGA Cosmic COSV5605
- cosmic curated COSV56050
- Pathogenic
- Regional enteritis; Blau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- AlphaMissense 0.87
- MetaLR 0.76
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Regional enteritis; Blau syndrome)
- EBI: Pathogenic (in BLAUS)
- UniProt: Pathogenic (in BLAUS)
- Population evidence available
- Cited in: A new CARD15 mutation in Blau syndrome. (PMID 15812565)
- Cited in: NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a… (PMID 19479837)